Genome Diagnostics Laboratory (University Medical Center Utrecht), GDL-UMCU
General information
Genome Diagnostics Laboratory, GDL-UMCU
University Medical Center Utrecht
Utrecht
Utrecht
Netherlands - 3584 EA
https://www.umcutrecht.nl/en/genoomdiagnostiek
Organization ID: 274978
University Medical Center Utrecht
Utrecht
Utrecht
Netherlands - 3584 EA
https://www.umcutrecht.nl/en/genoomdiagnostiek
Organization ID: 274978
Personnel
- Koen van Gassen, Staff
Phone: +31 88 75 540 90
Email: K.L.I.vanGassen-2@umcutrecht.nl - Bart Charbon, Variant scientist/curator
Phone: +31 88 75 540 90
Email: b.charbon@umcg.nl - Ellen van Binsbergen, Staff
Phone: +31 88 75 540 90
Email: E.vanBinsbergen@umcutrecht.nl - Lars van der Veken, Staff
Phone: +31 88 75 540 90
Email: l.vanderveken@umcutrecht.nl - Richard van Jaarsveld, Principal Investigator
Phone: 0031-06-31117874
Email: r.vanjaarsveld87@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 8912
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AARS1 | 10 | Sep 23, 2021 |
| ABCA3 | 1 | Sep 23, 2021 |
| ABCA4 | 1 | Sep 23, 2021 |
| ABCB11 | 5 | Oct 15, 2021 |
| ABCB4 | 5 | Sep 23, 2021 |
| ABCB6 | 3 | Sep 23, 2021 |
| ABCC2 | 1 | Sep 23, 2021 |
| ABCC6 | 6 | Sep 23, 2021 |
| ABCC9 | 41 | Sep 23, 2021 |
| ABCG5 | 7 | Dec 16, 2021 |
| ABCG8 | 6 | Oct 15, 2021 |
| ACAD8 | 1 | Dec 16, 2021 |
| ACAD9 | 2 | Sep 23, 2021 |
| ACADVL | 1 | Sep 23, 2021 |
| ACD | 2 | Sep 23, 2021 |
| ACE | 5 | Dec 16, 2021 |
| ACE2 | 1 | Sep 23, 2021 |
| ACOT9 | 1 | Sep 23, 2021 |
| ACP5 | 2 | Sep 23, 2021 |
| ACSF3 | 1 | Sep 23, 2021 |
| ACTA1 | 3 | Sep 23, 2021 |
| ACTC1 | 11 | Oct 15, 2021 |
| ACTL6B | 1 | Sep 23, 2021 |
| ACTN1 | 1 | Sep 23, 2021 |
| ACTN2 | 29 | Dec 16, 2021 |
| ACTN4 | 3 | Sep 23, 2021 |
| ACVR2B | 4 | Sep 23, 2021 |
| ACVR2B-AS1 | 1 | Sep 23, 2021 |
| ACVRL1 | 7 | Dec 16, 2021 |
| ADA | 5 | Sep 23, 2021 |
| ADA2 | 8 | Sep 23, 2021 |
| ADAM17 | 3 | Oct 15, 2021 |
| ADAMTS13 | 1 | Sep 23, 2021 |
| ADAMTS18 | 1 | Oct 15, 2021 |
| ADAR | 5 | Oct 15, 2021 |
| ADGRG4 | 1 | Sep 23, 2021 |
| ADGRV1 | 58 | Sep 23, 2021 |
| ADNP-AS1 | 1 | Oct 15, 2021 |
| ADSL | 3 | Oct 15, 2021 |
| AFF2 | 2 | Dec 16, 2021 |
| AFG2A | 6 | Sep 23, 2021 |
| AFG3L2 | 4 | Dec 16, 2021 |
| AGA | 2 | Sep 23, 2021 |
| AGL | 4 | Oct 15, 2021 |
| AGPAT2 | 2 | Sep 23, 2021 |
| AGRN | 1 | Sep 23, 2021 |
| AGT | 1 | Dec 16, 2021 |
| AHI1 | 10 | Dec 16, 2021 |
| AICDA | 2 | Apr 17, 2018 |
| AIFM1 | 2 | Oct 15, 2021 |
| AIP | 4 | Sep 23, 2021 |
| AIRE | 21 | Oct 15, 2021 |
| AKAP9 | 23 | Dec 16, 2021 |
| AKR1D1 | 1 | Sep 23, 2021 |
| AKT2 | 1 | Oct 15, 2021 |
| ALAS2 | 1 | Sep 23, 2021 |
| ALDH18A1 | 1 | Sep 23, 2021 |
| ALDH4A1 | 1 | Sep 23, 2021 |
| ALDH7A1 | 7 | Dec 16, 2021 |
| ALG1 | 3 | Sep 23, 2021 |
| ALG13 | 13 | Sep 23, 2021 |
| ALG6 | 2 | Apr 17, 2018 |
| ALG8 | 1 | Sep 23, 2021 |
| ALG9 | 1 | Sep 23, 2021 |
| ALK | 3 | Sep 23, 2021 |
| ALMS1 | 54 | Dec 16, 2021 |
| ALOX12B | 1 | Sep 23, 2021 |
| ALOXE3 | 2 | Sep 23, 2021 |
| ALPK3 | 7 | Dec 16, 2021 |
| ALPL | 1 | Sep 23, 2021 |
| ALS2 | 10 | Sep 23, 2021 |
| AMER1 | 5 | Sep 23, 2021 |
| AMH | 2 | Apr 17, 2018 |
| AMHR2 | 1 | Apr 17, 2018 |
| AMPD2 | 1 | Oct 15, 2021 |
| AMT | 5 | Sep 23, 2021 |
| ANG | 2 | Sep 23, 2021 |
| ANGPT1 | 1 | Sep 23, 2021 |
| ANK1 | 6 | Apr 17, 2018 |
| ANK2 | 34 | Oct 15, 2021 |
| ANK3 | 1 | Oct 15, 2021 |
| ANKRD1 | 18 | Sep 23, 2021 |
| ANKRD11 | 7 | Oct 15, 2021 |
| ANKRD26 | 4 | Sep 23, 2021 |
| ANKS6 | 1 | Sep 23, 2021 |
| ANLN | 1 | Dec 16, 2021 |
| ANO5 | 6 | Dec 16, 2021 |
| ANOS1 | 1 | Sep 23, 2021 |
| AOPEP | 2 | Sep 23, 2021 |
| AP1S3 | 2 | Sep 23, 2021 |
| AP3B1 | 9 | Dec 16, 2021 |
| AP3B2 | 2 | Sep 23, 2021 |
| AP3D1 | 5 | Dec 16, 2021 |
| AP4B1-AS1 | 3 | Sep 23, 2021 |
| AP4E1 | 1 | Sep 23, 2021 |
| AP5Z1 | 1 | Sep 23, 2021 |
| APC | 9 | Dec 16, 2021 |
| APC2 | 1 | Oct 15, 2021 |
| APOA1 | 1 | Oct 15, 2021 |
| APOA1-AS | 1 | Oct 15, 2021 |
| APOA2 | 2 | Sep 23, 2021 |
| APOB | 4 | Oct 15, 2021 |
| APOC2 | 1 | Sep 23, 2021 |
| APOC4-APOC2 | 1 | Sep 23, 2021 |
| APOE | 1 | Sep 23, 2021 |
| APOL1 | 7 | Oct 15, 2021 |
| APTX | 7 | Sep 23, 2021 |
| AQP2 | 2 | Sep 23, 2021 |
| AQP5-AS1 | 1 | Sep 23, 2021 |
| AR | 12 | Oct 15, 2021 |
| AREL1 | 1 | Sep 23, 2021 |
| ARFGEF1 | 2 | Oct 15, 2021 |
| ARHGAP31 | 1 | Sep 23, 2021 |
| ARHGEF1 | 2 | Dec 16, 2021 |
| ARHGEF10 | 8 | Sep 23, 2021 |
| ARHGEF6 | 1 | Sep 23, 2021 |
| ARHGEF9 | 2 | Sep 23, 2021 |
| ARID1A | 1 | Sep 23, 2021 |
| ARID1B | 2 | Sep 23, 2021 |
| ARL13B | 1 | Apr 17, 2018 |
| ARL6 | 1 | Sep 23, 2021 |
| ARPC1B | 1 | Sep 23, 2021 |
| ARSA | 18 | Sep 23, 2021 |
| ARV1 | 1 | Sep 23, 2021 |
| ARX | 4 | Sep 23, 2021 |
| ASAH1 | 2 | Sep 23, 2021 |
| ASH1L | 1 | Dec 16, 2021 |
| ASIC4-AS1 | 1 | Sep 23, 2021 |
| ASL | 2 | Apr 17, 2018 |
| ASPA | 1 | Oct 15, 2021 |
| ASPM | 3 | Dec 16, 2021 |
| ASXL1 | 1 | Sep 23, 2021 |
| ATL1 | 1 | Sep 23, 2021 |
| ATL3 | 1 | Sep 23, 2021 |
| ATM | 66 | Dec 16, 2021 |
| ATN1 | 2 | Sep 23, 2021 |
| ATP11C | 1 | Sep 23, 2021 |
| ATP1A2 | 7 | Dec 16, 2021 |
| ATP1A3 | 7 | Sep 23, 2021 |
| ATP2A1 | 3 | Sep 23, 2021 |
| ATP2A2 | 3 | Sep 23, 2021 |
| ATP6AP1 | 1 | Sep 23, 2021 |
| ATP6AP2 | 4 | Sep 23, 2021 |
| ATP6V0A4 | 2 | Sep 23, 2021 |
| ATP6V1B1 | 3 | Sep 23, 2021 |
| ATP7A | 1 | Sep 23, 2021 |
| ATP7B | 23 | Oct 15, 2021 |
| ATP8B1 | 4 | Oct 15, 2021 |
| ATP8B1-AS1 | 1 | Sep 23, 2021 |
| ATR | 1 | Sep 23, 2021 |
| ATRIP | 3 | Sep 23, 2021 |
| ATRIP-TREX1 | 3 | Sep 23, 2021 |
| ATRX | 11 | Apr 30, 2024 |
| ATXN1 | 4 | Sep 23, 2021 |
| ATXN10 | 3 | Dec 16, 2021 |
| ATXN2 | 1 | Sep 23, 2021 |
| ATXN3 | 1 | Sep 23, 2021 |
| ATXN7 | 2 | Sep 23, 2021 |
| AUTS2 | 3 | Sep 23, 2021 |
| AVP | 3 | Sep 23, 2021 |
| AVPR2 | 7 | Dec 16, 2021 |
| AXDND1 | 3 | Sep 23, 2021 |
| AXIN2 | 11 | Dec 16, 2021 |
| B3GAT3 | 2 | Sep 23, 2021 |
| B3GLCT | 2 | Sep 23, 2021 |
| B9D2 | 1 | Sep 23, 2021 |
| BACH2 | 3 | Dec 16, 2021 |
| BAG3 | 22 | Oct 15, 2021 |
| BAP1 | 1 | Dec 16, 2021 |
| BBS1 | 8 | Sep 23, 2021 |
| BBS10 | 8 | Sep 23, 2021 |
| BBS12 | 8 | Sep 23, 2021 |
| BBS2 | 11 | Dec 16, 2021 |
| BBS4 | 3 | Sep 23, 2021 |
| BBS5 | 4 | Dec 16, 2021 |
| BBS7 | 2 | Apr 17, 2018 |
| BBS9 | 11 | Sep 23, 2021 |
| BCKDHA | 1 | Apr 17, 2018 |
| BCKDHB | 1 | Sep 23, 2021 |
| BCOR | 3 | Sep 23, 2021 |
| BDNF | 2 | Oct 15, 2021 |
| BDNF-AS | 2 | Oct 15, 2021 |
| BDNF-AS1 | 2 | Oct 15, 2021 |
| BGN | 3 | Sep 23, 2021 |
| BICC1 | 1 | Sep 23, 2021 |
| BICD2 | 1 | Sep 23, 2021 |
| BIVM-ERCC5 | 1 | Sep 23, 2021 |
| BLK | 4 | Sep 23, 2021 |
| BLK-AS1 | 3 | Sep 23, 2021 |
| BLM | 8 | Sep 23, 2021 |
| BLOC1S6 | 1 | Apr 17, 2018 |
| BMP15 | 1 | Sep 23, 2021 |
| BMP2 | 1 | Sep 23, 2021 |
| BMP4 | 2 | Sep 23, 2021 |
| BMPR1A | 1 | Oct 15, 2021 |
| BPNT2 | 1 | Sep 23, 2021 |
| BRAF | 1 | Sep 23, 2021 |
| BRAT1 | 1 | Sep 23, 2021 |
| BRCA1 | 116 | Dec 16, 2021 |
| BRCA2 | 201 | Dec 16, 2021 |
| BRD2 | 1 | Sep 23, 2021 |
| BRIP1 | 13 | Sep 23, 2021 |
| BRRIAR | 1 | Sep 23, 2021 |
| BRWD3 | 2 | Sep 23, 2021 |
| BSCL2 | 3 | Dec 16, 2021 |
| BSND | 1 | Sep 23, 2021 |
| BTD | 3 | Sep 23, 2021 |
| BTK | 3 | Sep 23, 2021 |
| BUB1B | 1 | Sep 23, 2021 |
| BUB1B-PAK6 | 1 | Sep 23, 2021 |
| C11orf65 | 14 | Dec 16, 2021 |
| C12orf60 | 1 | Sep 23, 2021 |
| C19orf12 | 1 | Sep 23, 2021 |
| C1QA | 4 | Oct 15, 2021 |
| C1QB | 3 | Sep 23, 2021 |
| C1R | 1 | Sep 23, 2021 |
| C1S | 3 | Sep 23, 2021 |
| C1orf105 | 1 | Oct 15, 2021 |
| C2 | 10 | Sep 23, 2021 |
| C2-AS1 | 1 | Sep 23, 2021 |
| C2CD3 | 1 | Sep 23, 2021 |
| C3 | 14 | Dec 16, 2021 |
| C4A | 1 | Sep 23, 2021 |
| C4B | 1 | Sep 23, 2021 |
| C5 | 3 | Dec 16, 2021 |
| C6 | 4 | Sep 23, 2021 |
| C7 | 2 | Sep 23, 2021 |
| C8A | 2 | Oct 15, 2021 |
| C8B | 1 | Sep 23, 2021 |
| C8G | 1 | Sep 23, 2021 |
| C9 | 4 | Sep 23, 2021 |
| CA8 | 1 | Sep 23, 2021 |
| CACNA1A | 38 | Dec 16, 2021 |
| CACNA1B | 2 | Oct 15, 2021 |
| CACNA1C | 13 | Oct 15, 2021 |
| CACNA1C-AS1 | 4 | Sep 23, 2021 |
| CACNA1D | 3 | Dec 16, 2021 |
| CACNA1G | 4 | Oct 15, 2021 |
| CACNA1H | 26 | Sep 23, 2021 |
| CACNA1S | 6 | Dec 16, 2021 |
| CACNA2D1 | 14 | Sep 23, 2021 |
| CACNA2D1-AS1 | 1 | Sep 23, 2021 |
| CACNB2 | 16 | Sep 23, 2021 |
| CACNB4 | 6 | Dec 16, 2021 |
| CAD | 1 | Sep 23, 2021 |
| CALM1 | 1 | Sep 23, 2021 |
| CALM2 | 2 | Dec 16, 2021 |
| CALM3 | 2 | Sep 23, 2021 |
| CALR3 | 13 | Sep 23, 2021 |
| CAPN1 | 2 | Oct 15, 2021 |
| CAPN3 | 7 | Sep 23, 2021 |
| CAPZA1 | 1 | Sep 23, 2021 |
| CARD11 | 1 | Sep 23, 2021 |
| CARD14 | 7 | Dec 16, 2021 |
| CARD9 | 2 | Sep 23, 2021 |
| CARMIL2 | 3 | Sep 23, 2021 |
| CASK | 3 | Dec 16, 2021 |
| CASP10 | 4 | Sep 23, 2021 |
| CASP8 | 1 | Sep 23, 2021 |
| CASQ2 | 17 | Oct 15, 2021 |
| CASR | 7 | Sep 23, 2021 |
| CAST | 8 | Oct 15, 2021 |
| CAV3 | 9 | Sep 23, 2021 |
| CAVIN1 | 1 | Sep 23, 2021 |
| CBL | 6 | Sep 23, 2021 |
| CBR4 | 1 | Sep 23, 2021 |
| CBS | 5 | Sep 23, 2021 |
| CBX2 | 1 | Oct 15, 2021 |
| CC2D2A | 11 | Dec 16, 2021 |
| CCBE1 | 1 | Sep 23, 2021 |
| CCDC40 | 1 | Sep 23, 2021 |
| CCDC88C | 2 | Dec 16, 2021 |
| CCM2 | 5 | Dec 16, 2021 |
| CCNQ | 2 | Oct 15, 2021 |
| CCT5 | 1 | Sep 23, 2021 |
| CD151 | 1 | Sep 23, 2021 |
| CD19 | 1 | Sep 23, 2021 |
| CD2AP | 2 | Sep 23, 2021 |
| CD36 | 2 | Dec 16, 2021 |
| CD3D | 1 | Sep 23, 2021 |
| CD3E | 2 | Sep 23, 2021 |
| CD3G | 1 | Sep 23, 2021 |
| CD40 | 2 | Sep 23, 2021 |
| CD40LG | 2 | Sep 23, 2021 |
| CD46 | 2 | Sep 23, 2021 |
| CD55 | 2 | Sep 23, 2021 |
| CD59 | 2 | Sep 23, 2021 |
| CD81 | 4 | Dec 16, 2021 |
| CDAN1 | 1 | Sep 23, 2021 |
| CDC6 | 1 | Sep 23, 2021 |
| CDCA7 | 1 | Sep 23, 2021 |
| CDH1 | 5 | Sep 23, 2021 |
| CDKL5 | 12 | Oct 15, 2021 |
| CDKN1A | 1 | Sep 23, 2021 |
| CDKN1B | 1 | Apr 17, 2018 |
| CDKN1C | 2 | Sep 23, 2021 |
| CDKN2A | 1 | Sep 23, 2021 |
| CDSN | 2 | Sep 23, 2021 |
| CEBPA | 1 | Sep 23, 2021 |
| CENPF | 1 | Oct 15, 2021 |
| CEP104 | 3 | Dec 16, 2021 |
| CEP120 | 2 | Sep 23, 2021 |
| CEP135 | 1 | Sep 23, 2021 |
| CEP164 | 3 | Dec 16, 2021 |
| CEP290 | 22 | Oct 15, 2021 |
| CEP41 | 3 | Sep 23, 2021 |
| CEP83 | 2 | Oct 15, 2021 |
| CEP85L | 4 | Sep 23, 2021 |
| CERS1 | 3 | Sep 23, 2021 |
| CFAP418 | 1 | Oct 15, 2021 |
| CFAP53 | 1 | Sep 23, 2021 |
| CFB | 10 | Oct 15, 2021 |
| CFC1 | 2 | Sep 23, 2021 |
| CFH | 22 | Dec 16, 2021 |
| CFHR1 | 3 | Sep 23, 2021 |
| CFHR2 | 1 | Oct 15, 2021 |
| CFHR3 | 5 | Sep 23, 2021 |
| CFHR4 | 3 | Sep 23, 2021 |
| CFHR5 | 5 | Oct 15, 2021 |
| CFI | 8 | Dec 16, 2021 |
| CFL2 | 1 | Sep 23, 2021 |
| CFP | 3 | Sep 23, 2021 |
| CFTR | 13 | Dec 16, 2021 |
| CFTR-AS1 | 4 | Dec 16, 2021 |
| CFTR-AS2 | 2 | Sep 23, 2021 |
| CHAT | 2 | Dec 16, 2021 |
| CHCHD10 | 2 | Sep 23, 2021 |
| CHD2 | 4 | Sep 23, 2021 |
| CHD7 | 15 | Dec 16, 2021 |
| CHD8 | 1 | Sep 23, 2021 |
| CHEK2 | 7 | Dec 16, 2021 |
| CHKB | 1 | Sep 23, 2021 |
| CHKB-CPT1B | 3 | Sep 23, 2021 |
| CHMP2B | 1 | Sep 23, 2021 |
| CHRNA2 | 1 | Apr 17, 2018 |
| CHRNA4 | 5 | Sep 23, 2021 |
| CHRNB1 | 1 | Sep 23, 2021 |
| CHRNB2 | 1 | Sep 23, 2021 |
| CHRND | 1 | Sep 23, 2021 |
| CHRNG | 1 | Sep 23, 2021 |
| CHSY1 | 1 | Sep 23, 2021 |
| CIC | 2 | Sep 23, 2021 |
| CIITA | 2 | Sep 23, 2021 |
| CITED2 | 1 | Oct 15, 2021 |
| CLCN1 | 2 | Sep 23, 2021 |
| CLCN2 | 5 | Dec 16, 2021 |
| CLCN7 | 2 | Sep 23, 2021 |
| CLCNKB | 4 | Oct 15, 2021 |
| CLDN16 | 1 | Sep 23, 2021 |
| CLDN19 | 2 | Sep 23, 2021 |
| CLDN2 | 1 | Sep 23, 2021 |
| CLEC4D | 1 | Sep 23, 2021 |
| CLEC7A | 1 | Sep 23, 2021 |
| CLN3 | 8 | Sep 23, 2021 |
| CLN5 | 6 | Sep 23, 2021 |
| CLN6 | 4 | Dec 16, 2021 |
| CLN8 | 4 | Sep 23, 2021 |
| CLPB | 1 | Sep 23, 2021 |
| CNKSR2 | 1 | Sep 23, 2021 |
| CNNM2 | 1 | Oct 15, 2021 |
| CNTN1 | 1 | Sep 23, 2021 |
| CNTNAP2 | 19 | Sep 23, 2021 |
| COG6 | 3 | Sep 23, 2021 |
| COL11A1 | 4 | Sep 23, 2021 |
| COL11A2 | 2 | Oct 15, 2021 |
| COL12A1 | 1 | Sep 23, 2021 |
| COL1A1 | 8 | Oct 15, 2021 |
| COL1A2 | 3 | Oct 15, 2021 |
| COL3A1 | 10 | Sep 23, 2021 |
| COL4A1 | 5 | Oct 15, 2021 |
| COL4A2 | 1 | Sep 23, 2021 |
| COL4A3 | 26 | Dec 16, 2021 |
| COL4A4 | 22 | Oct 15, 2021 |
| COL4A5 | 7 | Oct 15, 2021 |
| COL5A1 | 29 | Dec 16, 2021 |
| COL5A2 | 20 | Dec 16, 2021 |
| COL6A1 | 12 | Dec 16, 2021 |
| COL6A2 | 6 | Sep 23, 2021 |
| COL6A3 | 16 | Dec 16, 2021 |
| COLEC11 | 1 | Sep 23, 2021 |
| COLQ | 1 | Sep 23, 2021 |
| COMT | 1 | Sep 23, 2021 |
| COPA | 1 | Sep 23, 2021 |
| COQ2 | 4 | Sep 23, 2021 |
| COQ8A | 2 | Dec 16, 2021 |
| COQ8B | 1 | Sep 23, 2021 |
| COQ9 | 1 | Sep 23, 2021 |
| CORO1A | 5 | Oct 15, 2021 |
| CPEB1-AS1 | 2 | Sep 23, 2021 |
| CPLANE1 | 10 | Oct 15, 2021 |
| CPS1 | 7 | Sep 23, 2021 |
| CPT1A | 1 | Apr 17, 2018 |
| CPT1B | 2 | Sep 23, 2021 |
| CPT2 | 4 | Oct 15, 2021 |
| CR2 | 4 | Dec 16, 2021 |
| CRB2 | 10 | Oct 15, 2021 |
| CREBBP | 6 | Sep 23, 2021 |
| CRELD1 | 4 | Sep 23, 2021 |
| CRPPA | 2 | Sep 23, 2021 |
| CRPPA-AS1 | 1 | Sep 23, 2021 |
| CRYAB | 8 | Sep 23, 2021 |
| CSF2RA | 2 | Sep 23, 2021 |
| CSF2RB | 3 | Sep 23, 2021 |
| CSF3R | 4 | Sep 23, 2021 |
| CSPP1 | 2 | Oct 15, 2021 |
| CSRP3 | 11 | Sep 23, 2021 |
| CSTB | 1 | Apr 17, 2018 |
| CTC1 | 5 | Dec 16, 2021 |
| CTDP1 | 6 | Sep 23, 2021 |
| CTLA4 | 1 | Nov 25, 2022 |
| CTNNA3 | 25 | Oct 15, 2021 |
| CTNNA3-AS1 | 1 | Sep 23, 2021 |
| CTNS | 2 | Sep 23, 2021 |
| CTSA | 1 | Sep 23, 2021 |
| CTSC | 2 | Sep 23, 2021 |
| CTSD | 6 | Sep 23, 2021 |
| CUBN | 9 | Oct 15, 2021 |
| CUL4B | 3 | Sep 23, 2021 |
| CXCR4 | 2 | Sep 23, 2021 |
| CYBA | 1 | Sep 23, 2021 |
| CYBB | 1 | Sep 23, 2021 |
| CYLD-AS1 | 1 | Sep 23, 2021 |
| CYP11B1 | 1 | Sep 23, 2021 |
| CYP11B2 | 4 | Oct 15, 2021 |
| CYP19A1 | 1 | Sep 23, 2021 |
| CYP21A2 | 1 | Dec 16, 2021 |
| CYP24A1 | 2 | Sep 23, 2021 |
| CYP27A1 | 2 | Oct 15, 2021 |
| CYP51A1 | 1 | Apr 17, 2018 |
| CYP7B1 | 1 | Sep 23, 2021 |
| D2HGDH | 1 | Sep 23, 2021 |
| DAG1 | 2 | Dec 16, 2021 |
| DARS2 | 1 | Dec 16, 2021 |
| DBNL | 1 | Sep 23, 2021 |
| DBT | 6 | Sep 23, 2021 |
| DCAF17 | 1 | Sep 23, 2021 |
| DCDC2 | 1 | Sep 23, 2021 |
| DCHS1 | 5 | Sep 23, 2021 |
| DCLRE1C | 4 | Sep 23, 2021 |
| DCTN1 | 4 | Oct 15, 2021 |
| DCX | 3 | Sep 23, 2021 |
| DDX11 | 1 | Sep 23, 2021 |
| DDX3X | 1 | Sep 23, 2021 |
| DDX53 | 1 | Sep 23, 2021 |
| DDX59 | 3 | Dec 16, 2021 |
| DEAF1 | 1 | Sep 23, 2021 |
| DEPDC5 | 10 | Sep 23, 2021 |
| DES | 23 | Dec 16, 2021 |
| DGAT1 | 3 | Oct 15, 2021 |
| DGAT2 | 1 | Sep 23, 2021 |
| DGKE | 3 | Oct 15, 2021 |
| DGUOK | 1 | Sep 23, 2021 |
| DHCR7 | 8 | Oct 15, 2021 |
| DHODH | 1 | Sep 23, 2021 |
| DHTKD1 | 1 | Sep 23, 2021 |
| DIAPH1 | 2 | Oct 15, 2021 |
| DICER1 | 8 | Dec 16, 2021 |
| DKC1 | 2 | Sep 23, 2021 |
| DLAT | 1 | Apr 17, 2018 |
| DLC1 | 1 | Dec 16, 2021 |
| DLD | 1 | Sep 23, 2021 |
| DM1-AS | 1 | Sep 23, 2021 |
| DMD | 49 | Dec 16, 2021 |
| DMP1 | 2 | Oct 15, 2021 |
| DMP1-AS1 | 2 | Oct 15, 2021 |
| DMPK | 2 | Sep 23, 2021 |
| DNAAF3 | 2 | Sep 23, 2021 |
| DNAH5 | 3 | Sep 23, 2021 |
| DNAH5-AS1 | 2 | Sep 23, 2021 |
| DNAJB2 | 1 | Oct 15, 2021 |
| DNAJB6 | 1 | Sep 23, 2021 |
| DNAJC21 | 2 | Sep 23, 2021 |
| DNAJC5 | 1 | Sep 23, 2021 |
| DNASE1 | 1 | Sep 23, 2021 |
| DNASE1L3 | 1 | Sep 23, 2021 |
| DNM1 | 2 | Dec 16, 2021 |
| DNM2 | 6 | Sep 23, 2021 |
| DNMT1 | 10 | Oct 15, 2021 |
| DNMT3B | 4 | Dec 16, 2021 |
| DOCK2 | 6 | Dec 16, 2021 |
| DOCK6 | 1 | Sep 23, 2021 |
| DOCK8 | 24 | Dec 16, 2021 |
| DOK7 | 1 | Sep 23, 2021 |
| DOLK | 1 | Oct 15, 2021 |
| DPAGT1 | 1 | Sep 23, 2021 |
| DPM1 | 1 | Oct 15, 2021 |
| DPP6 | 5 | Sep 23, 2021 |
| DPYD | 2 | Apr 17, 2018 |
| DSC2 | 32 | Dec 16, 2021 |
| DSCAS | 1 | Apr 17, 2018 |
| DSG2 | 56 | Dec 16, 2021 |
| DSG2-AS1 | 19 | Sep 23, 2021 |
| DSP | 76 | Dec 16, 2021 |
| DSP-AS1 | 4 | Sep 23, 2021 |
| DST | 12 | Dec 16, 2021 |
| DTNA | 17 | Oct 15, 2021 |
| DTNA-AS1 | 1 | Sep 23, 2021 |
| DTNBP1 | 2 | Sep 23, 2021 |
| DUSP29 | 1 | Sep 23, 2021 |
| DYNC1H1 | 6 | Oct 15, 2021 |
| DYNC2H1 | 5 | Dec 16, 2021 |
| DYNC2I1 | 1 | Sep 23, 2021 |
| DYNC2LI1 | 4 | Dec 16, 2021 |
| DYSF | 15 | Dec 16, 2021 |
| EDA | 2 | Sep 23, 2021 |
| EDAR | 2 | Sep 23, 2021 |
| EEF2 | 1 | Sep 23, 2021 |
| EFEMP2 | 5 | Oct 15, 2021 |
| EFHC1 | 2 | Sep 23, 2021 |
| EGF | 3 | Sep 23, 2021 |
| EGFR | 1 | Sep 23, 2021 |
| EGILA | 2 | Sep 23, 2021 |
| EHMT1 | 1 | Sep 23, 2021 |
| EIF2AK3 | 5 | Sep 23, 2021 |
| EIF2AK3-AS1 | 1 | Sep 23, 2021 |
| ELAC2 | 1 | Oct 15, 2021 |
| ELF4 | 1 | Dec 16, 2021 |
| ELN | 18 | Sep 23, 2021 |
| ELN-AS1 | 3 | Sep 23, 2021 |
| ELP1 | 11 | Sep 23, 2021 |
| EMD | 8 | Oct 15, 2021 |
| EMILIN1 | 1 | Sep 23, 2021 |
| ENG | 8 | Sep 23, 2021 |
| ENPP1 | 2 | Sep 23, 2021 |
| ENTREP2 | 1 | Sep 23, 2021 |
| EPB41 | 1 | Sep 23, 2021 |
| EPCAM | 3 | Oct 15, 2021 |
| EPG5 | 8 | Sep 23, 2021 |
| EPM2A | 3 | Sep 23, 2021 |
| EPM2A-DT | 1 | Sep 23, 2021 |
| ERBB4 | 1 | Sep 23, 2021 |
| ERCC2 | 1 | Sep 23, 2021 |
| ERCC3 | 3 | Oct 15, 2021 |
| ERCC5 | 1 | Sep 23, 2021 |
| ERCC6 | 2 | Oct 15, 2021 |
| ERCC6L2 | 2 | Dec 16, 2021 |
| ESCO2 | 1 | Sep 23, 2021 |
| ESR2 | 7 | Sep 23, 2021 |
| ETFB | 1 | Apr 17, 2018 |
| EVC | 8 | Dec 16, 2021 |
| EVC2 | 7 | Dec 16, 2021 |
| EXOSC3 | 1 | Sep 23, 2021 |
| EYA1 | 4 | Sep 23, 2021 |
| EYA4 | 6 | Sep 23, 2021 |
| F12 | 2 | Sep 23, 2021 |
| F8 | 13 | Sep 23, 2021 |
| FA2H | 1 | Apr 17, 2018 |
| FAAP24 | 1 | Sep 23, 2021 |
| FADD | 2 | Sep 23, 2021 |
| FAH | 6 | Dec 16, 2021 |
| FAM111A | 1 | Oct 15, 2021 |
| FAM20C | 1 | Sep 23, 2021 |
| FAN1 | 5 | Sep 23, 2021 |
| FANCA | 3 | Sep 23, 2021 |
| FANCC | 2 | Sep 23, 2021 |
| FANCF | 1 | Sep 23, 2021 |
| FANCG | 3 | Dec 16, 2021 |
| FANCI | 4 | Oct 15, 2021 |
| FARS2 | 1 | Sep 23, 2021 |
| FAS | 6 | Sep 23, 2021 |
| FASLG | 1 | Sep 23, 2021 |
| FAT1 | 7 | Dec 16, 2021 |
| FAT4 | 8 | Dec 16, 2021 |
| FBLN5 | 2 | Oct 15, 2021 |
| FBN1 | 24 | Dec 16, 2021 |
| FBN2 | 39 | Dec 16, 2021 |
| FBXL3 | 3 | Sep 23, 2021 |
| FBXL5 | 8 | Dec 16, 2021 |
| FBXO38 | 2 | Sep 23, 2021 |
| FCGR1A | 1 | Sep 23, 2021 |
| FCGR2A | 3 | Sep 23, 2021 |
| FCGR2B | 1 | Sep 23, 2021 |
| FCGR3A | 1 | Sep 23, 2021 |
| FCN3 | 4 | Oct 15, 2021 |
| FERMT3 | 4 | Sep 23, 2021 |
| FGA | 1 | Sep 23, 2021 |
| FGD1 | 6 | Sep 23, 2021 |
| FGD4 | 3 | Sep 23, 2021 |
| FGF12 | 2 | Sep 23, 2021 |
| FGF14 | 2 | Apr 17, 2018 |
| FGF8 | 1 | Sep 23, 2021 |
| FGFR1 | 3 | Sep 23, 2021 |
| FGFR2 | 5 | Sep 23, 2021 |
| FGFR3 | 3 | Sep 23, 2021 |
| FH | 6 | Dec 16, 2021 |
| FHL1 | 9 | Sep 23, 2021 |
| FIG4 | 14 | Dec 16, 2021 |
| FKRP | 1 | Sep 23, 2021 |
| FKTN | 10 | Sep 23, 2021 |
| FLCN | 7 | Sep 23, 2021 |
| FLNA | 42 | Dec 16, 2021 |
| FLNC | 98 | Dec 16, 2021 |
| FLNC-AS1 | 36 | Dec 16, 2021 |
| FN1 | 1 | Sep 23, 2021 |
| FOLR1 | 1 | Apr 17, 2018 |
| FOLR1-AS1 | 1 | Apr 17, 2018 |
| FOXE1 | 2 | Apr 17, 2018 |
| FOXE3 | 4 | Oct 15, 2021 |
| FOXG1 | 1 | Apr 17, 2018 |
| FOXH1 | 3 | Sep 23, 2021 |
| FOXI1 | 1 | Dec 16, 2021 |
| FOXN1 | 1 | Sep 23, 2021 |
| FOXP3 | 1 | Sep 23, 2021 |
| FPR1 | 1 | Sep 23, 2021 |
| FRAS1 | 53 | Oct 15, 2021 |
| FREM1 | 18 | Dec 16, 2021 |
| FREM2 | 17 | Oct 15, 2021 |
| FTCD | 1 | Sep 23, 2021 |
| FTL | 1 | Dec 16, 2021 |
| FUS | 7 | Sep 23, 2021 |
| FXYD2 | 1 | Sep 23, 2021 |
| FXYD6-FXYD2 | 1 | Sep 23, 2021 |
| G6PC1 | 3 | Sep 23, 2021 |
| G6PC3 | 2 | Sep 23, 2021 |
| G6PD | 2 | Sep 23, 2021 |
| GAA | 40 | Dec 16, 2021 |
| GABRA1 | 1 | Sep 23, 2021 |
| GABRB3 | 1 | Sep 23, 2021 |
| GABRD | 1 | Sep 23, 2021 |
| GABRG2 | 1 | Sep 23, 2021 |
| GALC | 1 | Sep 23, 2021 |
| GALK1 | 5 | Dec 16, 2021 |
| GALT | 3 | Sep 23, 2021 |
| GAMT | 3 | Oct 15, 2021 |
| GAN | 2 | Sep 23, 2021 |
| GANAB | 1 | Dec 16, 2021 |
| GARS1 | 2 | Sep 23, 2021 |
| GATA1 | 2 | Sep 23, 2021 |
| GATA2 | 5 | Sep 23, 2021 |
| GATA3 | 1 | Sep 23, 2021 |
| GATA4 | 13 | Dec 16, 2021 |
| GATA5 | 1 | Dec 16, 2021 |
| GATA6 | 3 | Dec 16, 2021 |
| GATAD1 | 6 | Oct 15, 2021 |
| GATM | 1 | Oct 15, 2021 |
| GBA1 | 1 | Sep 23, 2021 |
| GBA2 | 1 | Sep 23, 2021 |
| GBE1 | 5 | Oct 15, 2021 |
| GCLC | 1 | Sep 23, 2021 |
| GCSH | 1 | Sep 23, 2021 |
| GDF1 | 3 | Sep 23, 2021 |
| GFI1 | 7 | Dec 16, 2021 |
| GFRA1 | 1 | Dec 16, 2021 |
| GH-LCR | 4 | Sep 23, 2021 |
| GJA1 | 2 | Sep 23, 2021 |
| GJB1 | 3 | Sep 23, 2021 |
| GJB3 | 2 | Sep 23, 2021 |
| GJC2 | 2 | Sep 23, 2021 |
| GJD2-DT | 11 | Oct 15, 2021 |
| GLA | 16 | Dec 16, 2021 |
| GLB1 | 2 | Sep 23, 2021 |
| GLDC | 13 | Sep 23, 2021 |
| GLE1 | 1 | Sep 23, 2021 |
| GLI2 | 2 | Sep 23, 2021 |
| GLI3 | 6 | Dec 16, 2021 |
| GLIS3 | 4 | Dec 16, 2021 |
| GLRA1 | 1 | Apr 17, 2018 |
| GLRB | 1 | Apr 17, 2018 |
| GML | 1 | Sep 23, 2021 |
| GNAO1 | 1 | Sep 23, 2021 |
| GNAS | 10 | Oct 15, 2021 |
| GNPTAB | 2 | Sep 23, 2021 |
| GOSR2 | 4 | Sep 23, 2021 |
| GP1BA | 2 | Sep 23, 2021 |
| GPC3 | 13 | Sep 23, 2021 |
| GPD1L | 3 | Sep 23, 2021 |
| GPHN | 2 | Apr 17, 2018 |
| GREM1 | 1 | Sep 23, 2021 |
| GRHL2 | 1 | Sep 23, 2021 |
| GRIA3 | 3 | Sep 23, 2021 |
| GRIN1 | 1 | Sep 23, 2021 |
| GRIN2A | 9 | Sep 23, 2021 |
| GRIN2B | 6 | Sep 23, 2021 |
| GRIN2D | 2 | Sep 23, 2021 |
| GRIP1 | 9 | Oct 15, 2021 |
| GRM1 | 2 | Dec 16, 2021 |
| GRN | 5 | Sep 23, 2021 |
| GSN | 4 | Dec 16, 2021 |
| GUCY2C | 1 | Sep 23, 2021 |
| GUCY2C-AS1 | 1 | Sep 23, 2021 |
| GYS1 | 1 | Dec 16, 2021 |
| H2BC18 | 1 | Sep 23, 2021 |
| HAND1 | 1 | Sep 23, 2021 |
| HAVCR2 | 1 | Dec 16, 2021 |
| HAX1 | 1 | Sep 23, 2021 |
| HBA-LCR | 4 | Dec 16, 2021 |
| HBB | 3 | Oct 15, 2021 |
| HCFC1 | 12 | Sep 23, 2021 |
| HCN1 | 4 | Oct 15, 2021 |
| HCN4 | 21 | Oct 15, 2021 |
| HDAC8 | 1 | Sep 23, 2021 |
| HEATR3 | 1 | Nov 3, 2021 |
| HERC2 | 1 | Sep 23, 2021 |
| HESX1 | 1 | Sep 23, 2021 |
| HFE | 2 | Sep 23, 2021 |
| HFE-AS1 | 1 | Sep 23, 2021 |
| HGF | 1 | Apr 17, 2018 |
| HGSNAT | 1 | Apr 17, 2018 |
| HINT1 | 1 | Sep 23, 2021 |
| HK1 | 5 | Oct 15, 2021 |
| HLA-DRB1 | 1 | Sep 23, 2021 |
| HMBS | 1 | Sep 23, 2021 |
| HMOX1 | 2 | Sep 23, 2021 |
| HNF1A | 3 | Sep 23, 2021 |
| HNF1B | 7 | Dec 16, 2021 |
| HNF4A | 4 | Dec 16, 2021 |
| HNRNPA1 | 2 | Sep 23, 2021 |
| HNRNPU | 1 | Dec 16, 2021 |
| HNRNPUL2-BSCL2 | 3 | Dec 16, 2021 |
| HOXA13 | 2 | Oct 15, 2021 |
| HPRT1 | 1 | Sep 23, 2021 |
| HPS1 | 2 | Sep 23, 2021 |
| HPS3 | 1 | Sep 23, 2021 |
| HPS4 | 2 | Sep 23, 2021 |
| HPS5 | 4 | Sep 23, 2021 |
| HPSE2 | 1 | Sep 23, 2021 |
| HSALR1 | 3 | Oct 15, 2021 |
| HSD3B7 | 1 | Sep 23, 2021 |
| HSPB1 | 2 | Oct 15, 2021 |
| HSPB8 | 2 | Sep 23, 2021 |
| HSPG2 | 12 | Oct 15, 2021 |
| HTT | 2 | Dec 16, 2021 |
| HUWE1 | 9 | Dec 16, 2021 |
| HYOU1 | 1 | Sep 23, 2021 |
| IAH1 | 1 | Oct 15, 2021 |
| IDS | 2 | Sep 23, 2021 |
| IDUA | 5 | Oct 15, 2021 |
| IFIH1 | 6 | Dec 16, 2021 |
| IFNAR2 | 1 | Sep 23, 2021 |
| IFNAR2-IL10RB | 3 | Sep 23, 2021 |
| IFNGR1 | 1 | Sep 23, 2021 |
| IFNGR2 | 2 | Apr 17, 2018 |
| IFRD1 | 3 | Sep 23, 2021 |
| IFT122 | 2 | Sep 23, 2021 |
| IFT140 | 4 | Sep 23, 2021 |
| IFT172 | 6 | Dec 16, 2021 |
| IFT43 | 1 | Sep 23, 2021 |
| IFT54 | 1 | Oct 15, 2021 |
| IFT74 | 1 | Oct 15, 2021 |
| IFT81 | 2 | Dec 16, 2021 |
| IGF1 | 1 | Dec 16, 2021 |
| IGF1R | 2 | Sep 23, 2021 |
| IGHMBP2 | 6 | Dec 16, 2021 |
| IGLL1 | 1 | Sep 23, 2021 |
| IGSF1 | 2 | Sep 23, 2021 |
| IKBKB | 3 | Sep 23, 2021 |
| IKBKG | 4 | Dec 16, 2021 |
| IL10 | 1 | Sep 23, 2021 |
| IL10RA | 11 | Sep 23, 2021 |
| IL10RB | 2 | Sep 23, 2021 |
| IL12RB1 | 6 | Sep 23, 2021 |
| IL17RA | 7 | Dec 16, 2021 |
| IL17RC | 7 | Sep 23, 2021 |
| IL19 | 1 | Sep 23, 2021 |
| IL1RN | 4 | Sep 23, 2021 |
| IL21R | 1 | Sep 23, 2021 |
| IL2RA | 2 | Sep 23, 2021 |
| IL2RB | 3 | Oct 15, 2021 |
| IL2RG | 2 | Sep 23, 2021 |
| IL36RN | 1 | Sep 23, 2021 |
| IL6ST | 1 | Sep 23, 2021 |
| IL7R | 3 | Sep 23, 2021 |
| ILK | 7 | Oct 15, 2021 |
| INF2 | 11 | Sep 23, 2021 |
| INO80 | 5 | Dec 16, 2021 |
| INO80-AS1 | 1 | Sep 23, 2021 |
| INPP5E | 8 | Oct 15, 2021 |
| INPP5K | 1 | Sep 23, 2021 |
| INSL6 | 3 | Dec 16, 2021 |
| INSR | 4 | Dec 16, 2021 |
| INTS8 | 4 | Sep 23, 2021 |
| INVS | 3 | Dec 16, 2021 |
| IQCB1 | 5 | Sep 23, 2021 |
| IQSEC2 | 8 | Sep 23, 2021 |
| IRAK1 | 3 | Sep 23, 2021 |
| IRAK4 | 1 | Sep 23, 2021 |
| IRF2BP2 | 1 | Sep 23, 2021 |
| IRF2BPL | 6 | Dec 16, 2021 |
| IRF7 | 4 | Oct 15, 2021 |
| IRF8 | 4 | Oct 15, 2021 |
| IRS1 | 3 | Apr 17, 2018 |
| IRS2 | 1 | Sep 23, 2021 |
| IRS4 | 4 | Sep 23, 2021 |
| ITCH | 2 | Sep 23, 2021 |
| ITGA2B | 1 | Dec 16, 2021 |
| ITGA3 | 3 | Sep 23, 2021 |
| ITGA7 | 2 | Dec 16, 2021 |
| ITGB2 | 4 | Dec 16, 2021 |
| ITGB4 | 9 | Dec 16, 2021 |
| ITGBL1 | 2 | Apr 17, 2018 |
| ITK | 4 | Sep 23, 2021 |
| ITPR1 | 7 | Dec 16, 2021 |
| IVD | 1 | Dec 16, 2021 |
| JAG1 | 15 | Dec 16, 2021 |
| JAK1 | 2 | Sep 23, 2021 |
| JAK2 | 3 | Dec 16, 2021 |
| JAK3 | 5 | Sep 23, 2021 |
| JPH2 | 16 | Oct 15, 2021 |
| JPH3 | 1 | Sep 23, 2021 |
| JUP | 28 | Sep 23, 2021 |
| KANK1 | 7 | Oct 15, 2021 |
| KANK2 | 1 | Sep 23, 2021 |
| KARS1 | 6 | Sep 23, 2021 |
| KAT6A | 1 | Dec 16, 2021 |
| KAT6B | 1 | Sep 23, 2021 |
| KATNIP | 4 | Dec 16, 2021 |
| KBTBD13 | 3 | Sep 23, 2021 |
| KCNA1 | 1 | Oct 15, 2021 |
| KCNA2 | 1 | Sep 23, 2021 |
| KCNA5 | 1 | Sep 23, 2021 |
| KCNB1 | 1 | Oct 15, 2021 |
| KCNC1 | 1 | Sep 23, 2021 |
| KCNC3 | 7 | Sep 23, 2021 |
| KCND3 | 4 | Sep 23, 2021 |
| KCNE1 | 5 | Sep 23, 2021 |
| KCNE2 | 2 | Sep 23, 2021 |
| KCNE3 | 1 | Apr 17, 2018 |
| KCNH1 | 2 | Sep 23, 2021 |
| KCNH2 | 16 | Dec 16, 2021 |
| KCNJ1 | 1 | Sep 23, 2021 |
| KCNJ10 | 1 | Sep 23, 2021 |
| KCNJ11 | 2 | Sep 23, 2021 |
| KCNJ2 | 1 | Sep 23, 2021 |
| KCNJ5 | 4 | Sep 23, 2021 |
| KCNJ8 | 1 | Apr 17, 2018 |
| KCNJ8-AS1 | 6 | Sep 23, 2021 |
| KCNMA1 | 8 | Dec 16, 2021 |
| KCNMA1-AS1 | 4 | Dec 16, 2021 |
| KCNQ1 | 17 | Dec 16, 2021 |
| KCNQ1-AS1 | 2 | Sep 23, 2021 |
| KCNQ1OT1 | 2 | Sep 23, 2021 |
| KCNQ2 | 16 | Dec 16, 2021 |
| KCNQ3 | 8 | Sep 23, 2021 |
| KCNQ5 | 3 | Dec 16, 2021 |
| KCNT1 | 23 | Sep 23, 2021 |
| KCTD7 | 2 | Sep 23, 2021 |
| KDM5C | 6 | Oct 15, 2021 |
| KDM6A | 3 | Sep 23, 2021 |
| KIAA0586 | 4 | Dec 16, 2021 |
| KIAA0753 | 1 | Dec 16, 2021 |
| KIAA1210 | 1 | Sep 23, 2021 |
| KIDINS220 | 1 | Sep 23, 2021 |
| KIF14 | 1 | Sep 23, 2021 |
| KIF1A | 10 | Dec 16, 2021 |
| KIF1B | 15 | Oct 15, 2021 |
| KIF1C | 2 | Dec 16, 2021 |
| KIF21A | 1 | Sep 23, 2021 |
| KIF5A | 4 | Sep 23, 2021 |
| KIF7 | 21 | Dec 16, 2021 |
| KIRREL2 | 1 | Sep 23, 2021 |
| KIT | 1 | Oct 15, 2021 |
| KLKB1 | 1 | Sep 23, 2021 |
| KMT2A | 3 | Sep 23, 2021 |
| KMT2D | 13 | Dec 16, 2021 |
| KRAS | 2 | Sep 23, 2021 |
| KRIT1 | 8 | Sep 23, 2021 |
| LAMA1 | 2 | Sep 23, 2021 |
| LAMA2 | 6 | Oct 15, 2021 |
| LAMA4 | 48 | Sep 23, 2021 |
| LAMA4-AS1 | 1 | Sep 23, 2021 |
| LAMB2 | 8 | Dec 16, 2021 |
| LAMB3 | 2 | Sep 23, 2021 |
| LAMC3 | 1 | Sep 23, 2021 |
| LAMP2 | 12 | Oct 15, 2021 |
| LARGE1 | 2 | Sep 23, 2021 |
| LAT | 2 | Sep 23, 2021 |
| LCAT | 2 | Oct 15, 2021 |
| LCK | 1 | Sep 23, 2021 |
| LCT | 1 | Sep 23, 2021 |
| LDB3 | 31 | Oct 15, 2021 |
| LDLR | 3 | Sep 23, 2021 |
| LDLRAD2 | 1 | Sep 23, 2021 |
| LEFTY2 | 2 | Sep 23, 2021 |
| LEP | 2 | Sep 23, 2021 |
| LEPR | 9 | Oct 15, 2021 |
| LGI1 | 2 | Sep 23, 2021 |
| LHB | 4 | Apr 17, 2018 |
| LIG1 | 2 | Dec 16, 2021 |
| LIG4 | 3 | Sep 23, 2021 |
| LINC01389 | 4 | Oct 15, 2021 |
| LINC02456 | 1 | Dec 16, 2021 |
| LIPA | 1 | Apr 17, 2018 |
| LIPT2 | 1 | Apr 17, 2018 |
| LMNA | 40 | Dec 16, 2021 |
| LMOD1 | 3 | Oct 15, 2021 |
| LMOD3 | 1 | Dec 16, 2021 |
| LMX1B | 3 | Sep 23, 2021 |
| LNCROPM | 1 | Sep 23, 2021 |
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| LOC101928008 | 1 | Apr 17, 2018 |
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| LOC101929710 | 8 | Oct 15, 2021 |
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| LRP4 | 3 | Sep 23, 2021 |
| LRP4-AS1 | 2 | Sep 23, 2021 |
| LRP5 | 10 | Dec 16, 2021 |
| LRRC37A2 | 4 | Sep 23, 2021 |
| LRRC8A | 2 | Sep 23, 2021 |
| LRRK2 | 2 | Sep 23, 2021 |
| LRSAM1 | 4 | Sep 23, 2021 |
| LTBP3 | 6 | Oct 15, 2021 |
| LYST | 26 | Dec 16, 2021 |
| LZTR1 | 1 | Dec 16, 2021 |
| MAB21L2 | 1 | Sep 23, 2021 |
| MAF | 2 | Sep 23, 2021 |
| MAGEL2 | 12 | Sep 23, 2021 |
| MAGI2 | 1 | Sep 23, 2021 |
| MALT1 | 1 | Sep 23, 2021 |
| MAML2 | 1 | Sep 23, 2021 |
| MAN2B1 | 5 | Oct 15, 2021 |
| MANBA | 2 | Dec 16, 2021 |
| MAP3K1 | 1 | Apr 17, 2018 |
| MAP3K14 | 4 | Oct 15, 2021 |
| MAP3K14-AS1 | 1 | Sep 23, 2021 |
| MAPKBP1 | 1 | Sep 23, 2021 |
| MAPT | 6 | Sep 23, 2021 |
| MARS1 | 3 | Dec 16, 2021 |
| MASTL | 1 | Sep 23, 2021 |
| MAT2A | 1 | Sep 23, 2021 |
| MATR3 | 1 | Dec 16, 2021 |
| MBD5 | 2 | Sep 23, 2021 |
| MBL2 | 1 | Sep 23, 2021 |
| MC3R | 1 | Sep 23, 2021 |
| MC4R | 7 | Dec 16, 2021 |
| MCC | 1 | Dec 16, 2021 |
| MCCC1 | 1 | Sep 23, 2021 |
| MCCC2 | 1 | Sep 23, 2021 |
| MCHR1 | 1 | Sep 23, 2021 |
| MCM4 | 3 | Oct 15, 2021 |
| MDH2 | 2 | Sep 23, 2021 |
| MEA1 | 1 | Sep 23, 2021 |
| MECOM | 1 | Sep 23, 2021 |
| MECP2 | 26 | Dec 16, 2021 |
| MED12 | 10 | Oct 15, 2021 |
| MED12L | 1 | Sep 23, 2021 |
| MED13L | 3 | Sep 23, 2021 |
| MED25 | 2 | Sep 23, 2021 |
| MEF2C | 1 | Sep 23, 2021 |
| MEFV | 37 | Oct 15, 2021 |
| MEGF10 | 1 | Sep 23, 2021 |
| MEN1 | 11 | Oct 15, 2021 |
| MET | 9 | Sep 23, 2021 |
| MFAP5 | 1 | Sep 23, 2021 |
| MFF-DT | 26 | Dec 16, 2021 |
| MFN2 | 4 | Dec 16, 2021 |
| MFSD8 | 5 | Sep 23, 2021 |
| MHRT | 14 | Oct 15, 2021 |
| MIB1 | 15 | Oct 15, 2021 |
| MICU1 | 1 | Sep 23, 2021 |
| MID1 | 3 | Sep 23, 2021 |
| MID2 | 1 | Dec 16, 2021 |
| MIR208B | 1 | Sep 23, 2021 |
| MIR4713HG | 1 | Sep 23, 2021 |
| MIR6511B1 | 1 | Dec 16, 2021 |
| MKKS | 8 | Sep 23, 2021 |
| MKS1 | 9 | Oct 15, 2021 |
| MLH1 | 9 | Dec 16, 2021 |
| MLH3 | 2 | Sep 23, 2021 |
| MLPH | 2 | Dec 16, 2021 |
| MLYCD | 1 | Apr 17, 2018 |
| MMAA | 1 | Sep 23, 2021 |
| MMAB | 1 | Oct 15, 2021 |
| MME | 2 | Sep 23, 2021 |
| MMP21 | 2 | Oct 15, 2021 |
| MMUT | 3 | Apr 17, 2018 |
| MOCS2 | 1 | Sep 23, 2021 |
| MOGS | 1 | Sep 23, 2021 |
| MORC2 | 2 | Sep 23, 2021 |
| MPDZ | 1 | Oct 15, 2021 |
| MPI | 1 | Sep 23, 2021 |
| MPL | 4 | Dec 16, 2021 |
| MPO | 2 | Sep 23, 2021 |
| MRE11 | 8 | Dec 16, 2021 |
| MRTFA | 1 | Sep 23, 2021 |
| MSH2 | 11 | Dec 16, 2021 |
| MSH4 | 1 | Sep 23, 2021 |
| MSH6 | 16 | Oct 15, 2021 |
| MSX1 | 2 | Oct 15, 2021 |
| MTHFD1 | 1 | Sep 23, 2021 |
| MTHFR | 6 | Sep 23, 2021 |
| MTM1 | 2 | Dec 16, 2021 |
| MTMR10 | 3 | Sep 23, 2021 |
| MTMR2 | 4 | Sep 23, 2021 |
| MTOR | 12 | Dec 16, 2021 |
| MTR | 4 | Oct 15, 2021 |
| MTRR | 1 | Sep 23, 2021 |
| MTTP | 4 | Apr 17, 2018 |
| MUS81 | 1 | Oct 15, 2021 |
| MUTYH | 2 | Sep 23, 2021 |
| MVK | 21 | Oct 15, 2021 |
| MVP-DT | 9 | Dec 16, 2021 |
| MXRA5 | 1 | Sep 23, 2021 |
| MYBPC3 | 99 | Dec 16, 2021 |
| MYH11 | 60 | Dec 16, 2021 |
| MYH15 | 1 | Oct 15, 2021 |
| MYH2 | 2 | Dec 16, 2021 |
| MYH3 | 7 | Sep 23, 2021 |
| MYH6 | 88 | Dec 16, 2021 |
| MYH7 | 95 | Dec 16, 2021 |
| MYH9 | 16 | Dec 16, 2021 |
| MYHAS | 2 | Dec 16, 2021 |
| MYL2 | 6 | Sep 23, 2021 |
| MYL3 | 7 | Sep 23, 2021 |
| MYLK | 31 | Oct 15, 2021 |
| MYLK-AS1 | 2 | Sep 23, 2021 |
| MYLK2 | 12 | Sep 23, 2021 |
| MYO18B | 1 | Sep 23, 2021 |
| MYO5A | 2 | Oct 15, 2021 |
| MYO5B | 5 | Sep 23, 2021 |
| MYO6 | 2 | Sep 23, 2021 |
| MYOG | 1 | Sep 23, 2021 |
| MYOPARR | 1 | Sep 23, 2021 |
| MYOT | 6 | Dec 16, 2021 |
| MYOZ1 | 5 | Sep 23, 2021 |
| MYOZ2 | 9 | Sep 23, 2021 |
| MYPN | 29 | Sep 23, 2021 |
| NAA10 | 1 | Sep 23, 2021 |
| NADSYN1 | 1 | Sep 23, 2021 |
| NAGLU | 2 | Oct 15, 2021 |
| NBAS | 12 | Dec 16, 2021 |
| NBEA | 5 | Dec 16, 2021 |
| NBEAL2 | 1 | Oct 15, 2021 |
| NBN | 5 | Dec 16, 2021 |
| NCAPG2 | 1 | Oct 15, 2021 |
| NCAPH2 | 1 | Sep 23, 2021 |
| NCF1 | 3 | Dec 16, 2021 |
| NCF2 | 4 | Sep 23, 2021 |
| NCF4 | 3 | Sep 23, 2021 |
| NCF4-AS1 | 2 | Sep 23, 2021 |
| NCR1 | 4 | Sep 23, 2021 |
| NCSTN | 1 | Sep 23, 2021 |
| NDE1 | 28 | Dec 16, 2021 |
| NDRG1 | 2 | Oct 15, 2021 |
| NDST1 | 1 | Sep 23, 2021 |
| NDUFA1 | 1 | Sep 23, 2021 |
| NDUFS1 | 1 | Apr 17, 2018 |
| NDUFS4 | 1 | Dec 16, 2021 |
| NDUFS7 | 1 | Sep 23, 2021 |
| NEB | 57 | Dec 16, 2021 |
| NEBL | 14 | Oct 15, 2021 |
| NECTIN1 | 1 | Sep 23, 2021 |
| NEDD4L | 1 | Sep 23, 2021 |
| NEFH | 2 | Sep 23, 2021 |
| NEK1 | 4 | Sep 23, 2021 |
| NEK8 | 2 | Oct 15, 2021 |
| NEU1 | 1 | Dec 16, 2021 |
| NEURL2 | 1 | Sep 23, 2021 |
| NEXMIF | 5 | Sep 23, 2021 |
| NEXN | 21 | Dec 16, 2021 |
| NF1 | 3 | Oct 15, 2021 |
| NF2 | 1 | Sep 23, 2021 |
| NFAT5 | 1 | Sep 23, 2021 |
| NFIA | 1 | Sep 23, 2021 |
| NFKB2 | 1 | Sep 23, 2021 |
| NFKBIA | 2 | Sep 23, 2021 |
| NGF | 1 | Apr 17, 2018 |
| NGF-AS1 | 1 | Apr 17, 2018 |
| NHEJ1 | 2 | Sep 23, 2021 |
| NHERF1 | 1 | Sep 23, 2021 |
| NHLRC1 | 3 | Sep 23, 2021 |
| NHP2 | 1 | Sep 23, 2021 |
| NHS | 3 | Sep 23, 2021 |
| NKX2-5 | 6 | Sep 23, 2021 |
| NLGN3 | 1 | Sep 23, 2021 |
| NLRC4 | 5 | Oct 15, 2021 |
| NLRP1 | 7 | Sep 23, 2021 |
| NLRP12 | 7 | Sep 23, 2021 |
| NLRP3 | 24 | Oct 15, 2021 |
| NLRP7 | 9 | Sep 23, 2021 |
| NOD2 | 16 | Dec 16, 2021 |
| NODAL | 2 | Sep 23, 2021 |
| NOP10 | 1 | Oct 15, 2021 |
| NOTCH1 | 38 | Dec 16, 2021 |
| NOTCH2 | 15 | Oct 15, 2021 |
| NOTCH3 | 1 | Sep 23, 2021 |
| NPC1 | 21 | Dec 16, 2021 |
| NPHP1 | 5 | Sep 23, 2021 |
| NPHP3 | 12 | Dec 16, 2021 |
| NPHP3-ACAD11 | 13 | Dec 16, 2021 |
| NPHP3-AS1 | 3 | Oct 15, 2021 |
| NPHP4 | 25 | Oct 15, 2021 |
| NPHS1 | 13 | Dec 16, 2021 |
| NPHS2 | 7 | Sep 23, 2021 |
| NPPA | 1 | Sep 23, 2021 |
| NPPA-AS1 | 1 | Sep 23, 2021 |
| NPRL3 | 4 | Dec 16, 2021 |
| NR0B1 | 2 | Sep 23, 2021 |
| NR3C1 | 1 | Dec 16, 2021 |
| NRAP | 1 | Sep 23, 2021 |
| NRAS | 2 | Sep 23, 2021 |
| NRG1 | 3 | Sep 23, 2021 |
| NRXN1 | 4 | Sep 23, 2021 |
| NSD1 | 2 | Sep 23, 2021 |
| NSDHL | 3 | Sep 23, 2021 |
| NSMCE3 | 1 | Sep 23, 2021 |
| NSUN6 | 8 | Apr 17, 2018 |
| NTRK1 | 4 | Dec 16, 2021 |
| NUP107 | 2 | Sep 23, 2021 |
| NXF5 | 1 | Oct 15, 2021 |
| OBSCN | 5 | Sep 23, 2021 |
| OBSL1 | 4 | Dec 16, 2021 |
| OCRL | 5 | Oct 15, 2021 |
| OFD1 | 12 | Dec 16, 2021 |
| OPA1 | 2 | Sep 23, 2021 |
| OPA1-AS1 | 1 | Sep 23, 2021 |
| OPHN1 | 5 | Sep 23, 2021 |
| OPTN | 3 | Sep 23, 2021 |
| ORC1 | 1 | Dec 16, 2021 |
| OTULIN | 1 | Sep 23, 2021 |
| OXTR | 7 | Sep 23, 2021 |
| P2RY12 | 1 | Sep 23, 2021 |
| PACS1 | 1 | Apr 17, 2018 |
| PADI3 | 1 | Sep 23, 2021 |
| PAH | 31 | Dec 16, 2021 |
| PAK3 | 2 | Sep 23, 2021 |
| PALB2 | 18 | Dec 16, 2021 |
| PALD1 | 1 | Sep 23, 2021 |
| PALLD | 1 | Sep 23, 2021 |
| PARN | 3 | Dec 16, 2021 |
| PAX2 | 6 | Dec 16, 2021 |
| PAX5 | 1 | Sep 23, 2021 |
| PAX6 | 2 | Sep 23, 2021 |
| PAX8 | 5 | Sep 23, 2021 |
| PAX8-AS1 | 1 | Sep 23, 2021 |
| PAX9 | 2 | Apr 17, 2018 |
| PCCA | 5 | Dec 16, 2021 |
| PCCB | 4 | Dec 16, 2021 |
| PCDH19 | 9 | Sep 23, 2021 |
| PCK1 | 3 | Sep 23, 2021 |
| PCM1 | 1 | Oct 15, 2021 |
| PCNT | 2 | Oct 15, 2021 |
| PCSK1 | 8 | Oct 15, 2021 |
| PCSK9 | 3 | Oct 15, 2021 |
| PDGFRB | 1 | Oct 15, 2021 |
| PDK3 | 1 | Sep 23, 2021 |
| PDLIM3 | 12 | Sep 23, 2021 |
| PDSS1 | 1 | Apr 17, 2018 |
| PDYN | 3 | Sep 23, 2021 |
| PDYN-AS1 | 3 | Sep 23, 2021 |
| PEPD | 5 | Oct 15, 2021 |
| PEX1 | 6 | Oct 15, 2021 |
| PEX10 | 1 | Sep 23, 2021 |
| PEX12 | 2 | Sep 23, 2021 |
| PEX26 | 1 | Sep 23, 2021 |
| PEX6 | 1 | Sep 23, 2021 |
| PEX7 | 1 | Sep 23, 2021 |
| PGAM2 | 1 | Sep 23, 2021 |
| PGK1 | 1 | Sep 23, 2021 |
| PGM1 | 1 | Dec 16, 2021 |
| PHEX | 1 | Dec 16, 2021 |
| PHF21A | 1 | Sep 23, 2021 |
| PHF6 | 1 | Sep 23, 2021 |
| PHF8 | 1 | Sep 23, 2021 |
| PHGDH | 1 | Sep 23, 2021 |
| PHKA1 | 2 | Sep 23, 2021 |
| PHKA2 | 1 | Sep 23, 2021 |
| PHKA2-AS1 | 1 | Sep 23, 2021 |
| PHYH | 1 | Apr 17, 2018 |
| PIEZO1 | 10 | Dec 16, 2021 |
| PIEZO2 | 3 | Sep 23, 2021 |
| PIGA | 2 | Sep 23, 2021 |
| PIGC | 1 | Oct 15, 2021 |
| PIGG | 1 | Dec 16, 2021 |
| PIGL | 1 | Sep 23, 2021 |
| PIGN | 5 | Sep 23, 2021 |
| PIGO | 2 | Sep 23, 2021 |
| PIGT | 3 | Sep 23, 2021 |
| PIGV | 2 | Sep 23, 2021 |
| PIK3CA | 2 | Dec 16, 2021 |
| PIK3CD | 3 | Sep 23, 2021 |
| PIK3R1 | 3 | Dec 16, 2021 |
| PIK3R2 | 1 | Apr 17, 2018 |
| PIRC66 | 1 | Sep 23, 2021 |
| PKD1 | 91 | Dec 16, 2021 |
| PKD1-AS1 | 8 | Dec 16, 2021 |
| PKD1L1 | 6 | Dec 16, 2021 |
| PKD1L1-AS1 | 1 | Dec 16, 2021 |
| PKD2 | 8 | Dec 16, 2021 |
| PKD2L2-DT | 6 | Dec 16, 2021 |
| PKHD1 | 35 | Dec 16, 2021 |
| PKLR | 4 | Sep 23, 2021 |
| PKP2 | 42 | Dec 16, 2021 |
| PLCB1 | 8 | Sep 23, 2021 |
| PLCE1 | 9 | Oct 15, 2021 |
| PLCE1-AS1 | 2 | Apr 17, 2018 |
| PLCG2 | 30 | Sep 23, 2021 |
| PLEC | 15 | Dec 16, 2021 |
| PLEKHG5 | 3 | Sep 23, 2021 |
| PLEKHM1 | 1 | Sep 23, 2021 |
| PLG | 4 | Sep 23, 2021 |
| PLN | 4 | Sep 23, 2021 |
| PLOD1 | 8 | Sep 23, 2021 |
| PLP1 | 2 | Sep 23, 2021 |
| PMM2 | 9 | Sep 23, 2021 |
| PMP22 | 1 | Sep 23, 2021 |
| PMS2 | 14 | Sep 23, 2021 |
| PNKP | 12 | Sep 23, 2021 |
| PNPLA1 | 1 | Sep 23, 2021 |
| PNPLA2 | 1 | Oct 15, 2021 |
| PNPLA6 | 3 | Oct 15, 2021 |
| PNPO | 2 | Sep 23, 2021 |
| PODXL | 1 | Oct 15, 2021 |
| POF1B | 1 | Sep 23, 2021 |
| POLA1 | 1 | Sep 23, 2021 |
| POLD1 | 3 | Sep 23, 2021 |
| POLE | 18 | Oct 15, 2021 |
| POLG | 22 | Sep 23, 2021 |
| POLGARF | 22 | Sep 23, 2021 |
| POLR1C | 1 | Sep 23, 2021 |
| POLR1D | 1 | Dec 16, 2021 |
| POLR2F | 1 | Sep 23, 2021 |
| POLR3A | 1 | Sep 23, 2021 |
| POLR3B | 2 | Sep 23, 2021 |
| POLR3GL | 2 | Feb 6, 2019 |
| POMC | 2 | Sep 23, 2021 |
| POMGNT1 | 2 | Sep 23, 2021 |
| POMT1 | 3 | Sep 23, 2021 |
| POMT2 | 2 | Sep 23, 2021 |
| POR | 1 | Sep 23, 2021 |
| POT1 | 4 | Oct 15, 2021 |
| POTEI | 2 | Sep 23, 2021 |
| POU3F3 | 1 | Nov 25, 2022 |
| PPA2 | 3 | Sep 23, 2021 |
| PPP2R5D | 1 | Sep 23, 2021 |
| PPP3CA | 1 | Sep 23, 2021 |
| PPT1 | 6 | Sep 23, 2021 |
| PQBP1 | 1 | Sep 23, 2021 |
| PRDM16 | 7 | Dec 16, 2021 |
| PRF1 | 8 | Dec 16, 2021 |
| PRICKLE1 | 6 | Oct 15, 2021 |
| PRICKLE2 | 1 | Apr 17, 2018 |
| PRKAG2 | 16 | Oct 15, 2021 |
| PRKCD | 2 | Sep 23, 2021 |
| PRKCG | 5 | Sep 23, 2021 |
| PRKDC | 11 | Dec 16, 2021 |
| PRKG1 | 4 | Oct 15, 2021 |
| PROP1 | 1 | Oct 15, 2021 |
| PRPH | 1 | Sep 23, 2021 |
| PRPS1 | 1 | Oct 15, 2021 |
| PRRT2 | 9 | Dec 16, 2021 |
| PRSS1 | 2 | Sep 23, 2021 |
| PRX | 2 | Dec 16, 2021 |
| PSAT1 | 2 | Sep 23, 2021 |
| PSEN2 | 2 | Sep 23, 2021 |
| PSMA3 | 1 | Sep 23, 2021 |
| PSMB8 | 3 | Sep 23, 2021 |
| PSMB9 | 1 | Sep 23, 2021 |
| PSORS1C1 | 2 | Sep 23, 2021 |
| PSPH | 1 | Oct 15, 2021 |
| PSTPIP1 | 13 | Oct 15, 2021 |
| PTCH1 | 5 | Dec 16, 2021 |
| PTCHD1 | 1 | Sep 23, 2021 |
| PTCHD1-AS | 1 | Sep 23, 2021 |
| PTEN | 2 | Sep 23, 2021 |
| PTPN11 | 8 | Dec 16, 2021 |
| PTPN22 | 3 | Sep 23, 2021 |
| PTPRC | 4 | Dec 16, 2021 |
| PYGM | 2 | Dec 16, 2021 |
| QARS1 | 3 | Sep 23, 2021 |
| RAB27A | 1 | Sep 23, 2021 |
| RAB33A | 2 | Oct 15, 2021 |
| RAB39B | 1 | Sep 23, 2021 |
| RAB7A | 1 | Oct 15, 2021 |
| RAB9B | 2 | Sep 23, 2021 |
| RAD21 | 2 | Sep 23, 2021 |
| RAD50 | 1 | Apr 17, 2018 |
| RAD51C | 2 | Dec 16, 2021 |
| RAD51D | 1 | Sep 23, 2021 |
| RAD51L3-RFFL | 1 | Sep 23, 2021 |
| RAF1 | 1 | Sep 23, 2021 |
| RAG1 | 5 | Sep 23, 2021 |
| RAG2 | 3 | Sep 23, 2021 |
| RAI1 | 5 | Sep 23, 2021 |
| RANBP2 | 26 | Dec 16, 2021 |
| RAPSN | 2 | Sep 23, 2021 |
| RASGRP2 | 1 | Sep 23, 2021 |
| RBM10 | 1 | Sep 23, 2021 |
| RBM20 | 43 | Dec 16, 2021 |
| RECQL4 | 13 | Oct 15, 2021 |
| RELB | 1 | Oct 15, 2021 |
| RELN | 17 | Dec 16, 2021 |
| RENBP | 1 | Sep 23, 2021 |
| RET | 14 | Oct 15, 2021 |
| RETREG1 | 1 | Sep 23, 2021 |
| RETREG1-AS1 | 1 | Sep 23, 2021 |
| RFX5 | 2 | Sep 23, 2021 |
| RFXAP | 1 | Oct 15, 2021 |
| RHBDF2 | 1 | Sep 23, 2021 |
| RIC3 | 1 | Sep 23, 2021 |
| RIF1 | 8 | Dec 16, 2021 |
| RIGI | 2 | Sep 23, 2021 |
| RIPK1 | 1 | Dec 16, 2021 |
| RIPPLY1 | 1 | Sep 23, 2021 |
| RMND1 | 1 | Sep 23, 2021 |
| RMRP | 3 | Dec 16, 2021 |
| RNASE4 | 2 | Sep 23, 2021 |
| RNASEH2A | 4 | Sep 23, 2021 |
| RNASEH2B | 4 | Sep 23, 2021 |
| RNASEH2B-AS1 | 1 | Sep 23, 2021 |
| RNASEH2C | 2 | Apr 17, 2018 |
| RNF168 | 1 | Sep 23, 2021 |
| RNF216 | 1 | Dec 16, 2021 |
| RNF31 | 1 | Sep 23, 2021 |
| ROBO2 | 4 | Sep 23, 2021 |
| ROBO4 | 2 | Sep 23, 2021 |
| ROGDI | 3 | Dec 16, 2021 |
| RORC | 2 | Sep 23, 2021 |
| RPGRIP1 | 6 | Dec 16, 2021 |
| RPGRIP1L | 13 | Dec 16, 2021 |
| RPL36A-HNRNPH2 | 16 | Dec 16, 2021 |
| RPL5 | 1 | Sep 23, 2021 |
| RPS19 | 1 | Sep 23, 2021 |
| RRM2B | 1 | Dec 16, 2021 |
| RS1 | 3 | Sep 23, 2021 |
| RTEL1 | 7 | Sep 23, 2021 |
| RTEL1-TNFRSF6B | 7 | Sep 23, 2021 |
| RTL1 | 3 | Sep 23, 2021 |
| RTN2 | 1 | Sep 23, 2021 |
| RUNX1 | 2 | Sep 23, 2021 |
| RUNX2 | 1 | Sep 23, 2021 |
| RXYLT1 | 1 | Sep 23, 2021 |
| RYR1 | 30 | Dec 16, 2021 |
| RYR2 | 86 | Dec 16, 2021 |
| SACK1H | 2 | Apr 17, 2018 |
| SACS | 7 | Dec 16, 2021 |
| SALL1 | 9 | Oct 15, 2021 |
| SALL4 | 2 | Sep 23, 2021 |
| SAMD9 | 2 | Sep 23, 2021 |
| SAMD9L | 1 | Sep 23, 2021 |
| SAMHD1 | 2 | Sep 23, 2021 |
| SARS2 | 1 | Dec 16, 2021 |
| SATB2 | 1 | Apr 17, 2018 |
| SBDS | 3 | Apr 17, 2018 |
| SBF1 | 8 | Dec 16, 2021 |
| SBF2 | 1 | Apr 17, 2018 |
| SCARB2 | 2 | Sep 23, 2021 |
| SCARF2 | 3 | Oct 15, 2021 |
| SCN11A | 2 | Oct 15, 2021 |
| SCN1A | 28 | Dec 16, 2021 |
| SCN1A-AS1 | 20 | Dec 16, 2021 |
| SCN1B | 19 | Sep 23, 2021 |
| SCN2A | 14 | Sep 23, 2021 |
| SCN3A | 1 | Oct 15, 2021 |
| SCN3B | 3 | Sep 23, 2021 |
| SCN4A | 10 | Oct 15, 2021 |
| SCN4B | 4 | Sep 23, 2021 |
| SCN5A | 58 | Dec 16, 2021 |
| SCN8A | 9 | Sep 23, 2021 |
| SCN9A | 23 | Dec 16, 2021 |
| SCNN1A | 1 | Sep 23, 2021 |
| SCNN1B | 3 | Oct 15, 2021 |
| SCNN1G | 1 | Sep 23, 2021 |
| SCO2 | 2 | Oct 15, 2021 |
| SDCCAG8 | 3 | Oct 15, 2021 |
| SDHA | 8 | Oct 15, 2021 |
| SDHAF2 | 1 | Dec 16, 2021 |
| SDHB | 10 | Sep 23, 2021 |
| SDHD | 3 | Sep 23, 2021 |
| SEC23B | 1 | Oct 15, 2021 |
| SEC63 | 4 | Oct 15, 2021 |
| SELENON | 6 | Sep 23, 2021 |
| SEMA3E | 1 | Sep 23, 2021 |
| SEMA4A | 1 | Sep 23, 2021 |
| SEPTIN9 | 6 | Dec 16, 2021 |
| SERPINA1 | 2 | Sep 23, 2021 |
| SERPING1 | 5 | Dec 16, 2021 |
| SETBP1 | 2 | Sep 23, 2021 |
| SETD5 | 2 | Dec 16, 2021 |
| SETX | 30 | Oct 15, 2021 |
| SFTPA2 | 1 | Dec 16, 2021 |
| SGCD | 10 | Dec 16, 2021 |
| SGCG | 1 | Apr 17, 2018 |
| SGSH | 6 | Oct 15, 2021 |
| SH2B3 | 3 | Oct 15, 2021 |
| SH2D1A | 1 | Sep 23, 2021 |
| SH3BP2 | 5 | Sep 23, 2021 |
| SH3KBP1 | 1 | Sep 23, 2021 |
| SH3TC2 | 6 | Sep 23, 2021 |
| SHANK3 | 2 | Sep 23, 2021 |
| SHOX | 2 | Sep 23, 2021 |
| SIM1 | 2 | Sep 23, 2021 |
| SIM1-AS1 | 1 | Sep 23, 2021 |
| SIX5 | 6 | Sep 23, 2021 |
| SKI | 6 | Sep 23, 2021 |
| SKIC2 | 3 | Sep 23, 2021 |
| SKIC3 | 6 | Oct 15, 2021 |
| SLC12A1 | 3 | Oct 15, 2021 |
| SLC12A3 | 28 | Dec 16, 2021 |
| SLC12A5 | 1 | Dec 16, 2021 |
| SLC12A6 | 4 | Oct 15, 2021 |
| SLC13A5 | 2 | Oct 15, 2021 |
| SLC16A1 | 2 | Sep 23, 2021 |
| SLC19A3 | 7 | Sep 23, 2021 |
| SLC1A3 | 4 | Sep 23, 2021 |
| SLC1A3-AS1 | 3 | Sep 23, 2021 |
| SLC20A2 | 1 | Sep 23, 2021 |
| SLC22A5 | 5 | Oct 15, 2021 |
| SLC25A1 | 1 | Dec 16, 2021 |
| SLC25A12 | 1 | Sep 23, 2021 |
| SLC25A13 | 2 | Sep 23, 2021 |
| SLC25A22 | 6 | Oct 15, 2021 |
| SLC26A1 | 3 | Oct 15, 2021 |
| SLC26A2 | 1 | Sep 23, 2021 |
| SLC26A5-AS1 | 1 | Sep 23, 2021 |
| SLC29A3 | 5 | Sep 23, 2021 |
| SLC2A1 | 15 | Sep 23, 2021 |
| SLC2A10 | 7 | Sep 23, 2021 |
| SLC2A2 | 1 | Sep 23, 2021 |
| SLC34A1 | 3 | Sep 23, 2021 |
| SLC34A3 | 5 | Oct 15, 2021 |
| SLC35A2 | 1 | Sep 23, 2021 |
| SLC35C1 | 2 | Oct 15, 2021 |
| SLC37A4 | 3 | Sep 23, 2021 |
| SLC39A4 | 3 | Sep 23, 2021 |
| SLC3A1 | 3 | Oct 15, 2021 |
| SLC46A1 | 1 | Apr 17, 2018 |
| SLC4A1 | 5 | Sep 23, 2021 |
| SLC52A2 | 2 | Sep 23, 2021 |
| SLC52A3 | 2 | Dec 16, 2021 |
| SLC5A2 | 2 | Sep 23, 2021 |
| SLC6A1 | 6 | Oct 15, 2021 |
| SLC6A1-AS1 | 1 | Oct 15, 2021 |
| SLC6A19 | 6 | Sep 23, 2021 |
| SLC6A5 | 6 | Sep 23, 2021 |
| SLC6A8 | 11 | Sep 23, 2021 |
| SLC7A7 | 5 | Oct 15, 2021 |
| SLC7A9 | 2 | Oct 15, 2021 |
| SLC9A1 | 2 | Sep 23, 2021 |
| SLC9A3R1-AS1 | 1 | Sep 23, 2021 |
| SLC9A6 | 5 | Oct 15, 2021 |
| SLCO1B1 | 1 | Oct 15, 2021 |
| SLIT2 | 1 | Dec 16, 2021 |
| SLX4 | 5 | Dec 16, 2021 |
| SMAD3 | 5 | Sep 23, 2021 |
| SMAD4 | 5 | Sep 23, 2021 |
| SMAD6 | 4 | Oct 15, 2021 |
| SMARCA2 | 2 | Sep 23, 2021 |
| SMARCAL1 | 6 | Sep 23, 2021 |
| SMC1A | 6 | Dec 16, 2021 |
| SMPD1 | 5 | Sep 23, 2021 |
| SMS | 1 | Sep 23, 2021 |
| SNHG14 | 4 | Sep 23, 2021 |
| SNHG22 | 1 | Apr 17, 2018 |
| SNTA1 | 5 | Sep 23, 2021 |
| SNX10 | 1 | Oct 15, 2021 |
| SOD1 | 2 | Dec 16, 2021 |
| SOD1-DT | 1 | Dec 16, 2021 |
| SON | 9 | Dec 16, 2021 |
| SOS1 | 5 | Sep 23, 2021 |
| SOX10 | 1 | Sep 23, 2021 |
| SOX17 | 1 | Oct 15, 2021 |
| SOX3 | 2 | Sep 23, 2021 |
| SOX9 | 4 | Oct 15, 2021 |
| SP110 | 3 | Sep 23, 2021 |
| SP140 | 1 | Sep 23, 2021 |
| SPAST | 4 | Sep 23, 2021 |
| SPATA22 | 1 | Oct 15, 2021 |
| SPATA25 | 1 | Sep 23, 2021 |
| SPECC1L | 1 | Oct 15, 2021 |
| SPECC1L-ADORA2A | 1 | Oct 15, 2021 |
| SPEG | 1 | Sep 23, 2021 |
| SPG11 | 23 | Dec 16, 2021 |
| SPG7 | 2 | Sep 23, 2021 |
| SPINK5 | 8 | Dec 16, 2021 |
| SPINT2 | 1 | Sep 23, 2021 |
| SPOP | 1 | Sep 23, 2021 |
| SPPL2A | 1 | Sep 23, 2021 |
| SPRED1 | 1 | Sep 23, 2021 |
| SPTA1 | 22 | Sep 23, 2021 |
| SPTAN1 | 6 | Oct 15, 2021 |
| SPTB | 3 | Sep 23, 2021 |
| SPTBN2 | 1 | Dec 16, 2021 |
| SPTLC1 | 2 | Sep 23, 2021 |
| SPTLC2 | 1 | Sep 23, 2021 |
| SQSTM1 | 4 | Dec 16, 2021 |
| SRCAP | 3 | Sep 23, 2021 |
| SRD5A3 | 1 | Sep 23, 2021 |
| SRD5A3-AS1 | 1 | Sep 23, 2021 |
| SRFBP1 | 1 | Sep 23, 2021 |
| SRP72 | 2 | Oct 15, 2021 |
| SRPX2 | 5 | Sep 23, 2021 |
| SSUH2 | 2 | Sep 23, 2021 |
| ST14 | 2 | Apr 17, 2018 |
| ST3GAL3 | 2 | Sep 23, 2021 |
| ST7L | 1 | Sep 23, 2021 |
| STAT1 | 9 | Dec 16, 2021 |
| STAT2 | 3 | Sep 23, 2021 |
| STAT3 | 2 | Sep 23, 2021 |
| STAT4 | 2 | Sep 23, 2021 |
| STAT5B | 3 | Dec 16, 2021 |
| STAT6 | 1 | Dec 16, 2021 |
| STIM1 | 4 | Oct 15, 2021 |
| STING1 | 2 | Sep 23, 2021 |
| STK11 | 2 | Dec 16, 2021 |
| STK4 | 1 | Dec 16, 2021 |
| STN1 | 1 | Sep 23, 2021 |
| STRA6 | 3 | Oct 15, 2021 |
| STRADA | 1 | Oct 15, 2021 |
| STS | 1 | Sep 23, 2021 |
| STX11 | 1 | Sep 23, 2021 |
| STX3 | 1 | Sep 23, 2021 |
| STXBP1 | 10 | Dec 16, 2021 |
| STXBP2 | 4 | Sep 23, 2021 |
| SURF1 | 1 | Sep 23, 2021 |
| SYN1 | 7 | Sep 23, 2021 |
| SYNE1 | 47 | Sep 23, 2021 |
| SYNE2 | 35 | Dec 16, 2021 |
| SYNGAP1 | 4 | Sep 23, 2021 |
| SYNGAP1-AS1 | 3 | Sep 23, 2021 |
| SYNJ1 | 4 | Sep 23, 2021 |
| SYP | 1 | Sep 23, 2021 |
| SYT2 | 1 | Sep 23, 2021 |
| SZT2 | 12 | Sep 23, 2021 |
| SZT2-AS1 | 2 | Sep 23, 2021 |
| TAF10 | 6 | Oct 15, 2021 |
| TAFAZZIN | 8 | Sep 23, 2021 |
| TANC2 | 1 | Oct 15, 2021 |
| TAP1 | 5 | Dec 16, 2021 |
| TAP2 | 3 | Sep 23, 2021 |
| TAPBP | 1 | Dec 16, 2021 |
| TAPBPL | 1 | Sep 23, 2021 |
| TAPT1 | 1 | Sep 23, 2021 |
| TARDBP | 6 | Dec 16, 2021 |
| TARID | 2 | Sep 23, 2021 |
| TBC1D24 | 8 | Sep 23, 2021 |
| TBCE | 7 | Oct 15, 2021 |
| TBCK | 1 | Sep 23, 2021 |
| TBK1 | 3 | Sep 23, 2021 |
| TBP | 2 | Apr 17, 2018 |
| TBX1 | 9 | Sep 23, 2021 |
| TBX20 | 1 | Sep 23, 2021 |
| TBX5 | 3 | Oct 15, 2021 |
| TBXAS1 | 2 | Dec 16, 2021 |
| TCAP | 6 | Dec 16, 2021 |
| TCF3 | 4 | Sep 23, 2021 |
| TCF4 | 3 | Sep 23, 2021 |
| TCIRG1 | 3 | Oct 15, 2021 |
| TCN2 | 2 | Dec 16, 2021 |
| TCOF1 | 2 | Sep 23, 2021 |
| TCTN2 | 2 | Sep 23, 2021 |
| TCTN3 | 3 | Sep 23, 2021 |
| TECRL | 1 | Sep 23, 2021 |
| TERC | 1 | Sep 23, 2021 |
| TERT | 11 | Sep 23, 2021 |
| TFG | 3 | Dec 16, 2021 |
| TFRC | 1 | Sep 23, 2021 |
| TGFB1 | 1 | Sep 23, 2021 |
| TGFB2 | 5 | Sep 23, 2021 |
| TGFB3 | 7 | Sep 23, 2021 |
| TGFBR1 | 2 | Sep 23, 2021 |
| TGFBR2 | 6 | Oct 15, 2021 |
| TGM1 | 4 | Sep 23, 2021 |
| TGM6 | 1 | Dec 16, 2021 |
| THRB | 1 | Sep 23, 2021 |
| TICAM1 | 3 | Sep 23, 2021 |
| TINF2 | 2 | Oct 15, 2021 |
| TIRAP | 2 | Sep 23, 2021 |
| TJP2 | 1 | Sep 23, 2021 |
| TK2 | 1 | Apr 17, 2018 |
| TLL1 | 2 | Dec 16, 2021 |
| TLR3 | 2 | Sep 23, 2021 |
| TLR4 | 1 | Sep 23, 2021 |
| TMC6 | 4 | Sep 23, 2021 |
| TMC8 | 6 | Oct 15, 2021 |
| TMCO1 | 2 | Sep 23, 2021 |
| TMEM126A | 1 | Sep 23, 2021 |
| TMEM127 | 2 | Sep 23, 2021 |
| TMEM138 | 3 | Dec 16, 2021 |
| TMEM231 | 2 | Oct 15, 2021 |
| TMEM237 | 2 | Oct 15, 2021 |
| TMEM43 | 25 | Oct 15, 2021 |
| TMEM67 | 8 | Sep 23, 2021 |
| TMPO | 5 | Sep 23, 2021 |
| TMPRSS15 | 1 | Sep 23, 2021 |
| TNFAIP3 | 8 | Dec 16, 2021 |
| TNFRSF11A | 3 | Dec 16, 2021 |
| TNFRSF13B | 4 | Oct 15, 2021 |
| TNFRSF13C | 1 | Apr 17, 2018 |
| TNFRSF1A | 10 | Dec 16, 2021 |
| TNFRSF4 | 1 | Sep 23, 2021 |
| TNNC1 | 1 | Sep 23, 2021 |
| TNNI3 | 15 | Oct 15, 2021 |
| TNNT1 | 2 | Sep 23, 2021 |
| TNNT2 | 23 | Dec 16, 2021 |
| TNNT3 | 1 | Sep 23, 2021 |
| TNXB | 19 | Dec 16, 2021 |
| TOP2B | 1 | Oct 15, 2021 |
| TOR1A | 1 | Sep 23, 2021 |
| TOR1AIP1 | 1 | Oct 15, 2021 |
| TP53 | 3 | Sep 23, 2021 |
| TP63 | 1 | Sep 23, 2021 |
| TPM1 | 16 | Oct 15, 2021 |
| TPM2 | 2 | Sep 23, 2021 |
| TPO | 1 | Sep 23, 2021 |
| TPP1 | 9 | Oct 15, 2021 |
| TPP2 | 2 | Dec 16, 2021 |
| TPRKB | 1 | Dec 16, 2021 |
| TRAF3 | 2 | Sep 23, 2021 |
| TRAF3IP2 | 2 | Sep 23, 2021 |
| TRAF3IP2-AS1 | 2 | Sep 23, 2021 |
| TRAF6 | 1 | Sep 23, 2021 |
| TRAPPC11 | 2 | Oct 15, 2021 |
| TRB | 2 | Sep 23, 2021 |
| TRDN | 1 | Sep 23, 2021 |
| TREX1 | 3 | Sep 23, 2021 |
| TRIM2 | 1 | Oct 15, 2021 |
| TRIM37 | 1 | Sep 23, 2021 |
| TRIM63 | 7 | Sep 23, 2021 |
| TRIM8 | 1 | Dec 16, 2021 |
| TRIO | 6 | Oct 15, 2021 |
| TRNT1 | 1 | Oct 15, 2021 |
| TROAP-AS1 | 1 | Sep 23, 2021 |
| TRPC6 | 2 | Sep 23, 2021 |
| TRPM4 | 2 | Sep 23, 2021 |
| TRPM6 | 2 | Dec 16, 2021 |
| TRPS1 | 2 | Sep 23, 2021 |
| TRPV4 | 15 | Dec 16, 2021 |
| TSC1 | 7 | Dec 16, 2021 |
| TSC2 | 19 | Dec 16, 2021 |
| TSEN54 | 1 | Oct 15, 2021 |
| TSHZ1 | 1 | Sep 23, 2021 |
| TSPAN1 | 1 | Sep 23, 2021 |
| TSPAN7 | 1 | Sep 23, 2021 |
| TTC21B | 10 | Dec 16, 2021 |
| TTC21B-AS1 | 2 | Sep 23, 2021 |
| TTC7A | 7 | Sep 23, 2021 |
| TTC8 | 6 | Dec 16, 2021 |
| TTN | 506 | Dec 16, 2021 |
| TTN-AS1 | 329 | Dec 16, 2021 |
| TTR | 12 | Sep 23, 2021 |
| TUB | 2 | Sep 23, 2021 |
| TUBA4A | 1 | Oct 15, 2021 |
| TWNK | 1 | Sep 23, 2021 |
| TXNRD2 | 4 | Sep 23, 2021 |
| TYK2 | 3 | Sep 23, 2021 |
| TYMP | 2 | Oct 15, 2021 |
| UBA1 | 1 | Sep 23, 2021 |
| UBA5 | 1 | Dec 16, 2021 |
| UBE3A | 4 | Sep 23, 2021 |
| UBQLN2 | 1 | Sep 23, 2021 |
| UGDH | 1 | Sep 23, 2021 |
| UMOD | 2 | Sep 23, 2021 |
| UNC13A | 1 | Sep 23, 2021 |
| UNC13D | 13 | Sep 23, 2021 |
| UNC93B1 | 4 | Sep 23, 2021 |
| UNG | 3 | Sep 23, 2021 |
| UPB1 | 1 | Apr 17, 2018 |
| UPK3A | 3 | Apr 17, 2018 |
| USP34-DT | 2 | Jul 30, 2025 |
| VAMP1 | 1 | Sep 23, 2021 |
| VANGL1 | 2 | Apr 17, 2018 |
| VAPB | 2 | Sep 23, 2021 |
| VAV1 | 2 | Sep 23, 2021 |
| VCL | 34 | Dec 16, 2021 |
| VCP | 13 | Oct 15, 2021 |
| VHL | 12 | Sep 23, 2021 |
| VPS13A | 1 | Sep 23, 2021 |
| VPS13B | 31 | Dec 16, 2021 |
| VPS33B | 4 | Oct 15, 2021 |
| VPS37A | 1 | Oct 15, 2021 |
| VPS45 | 2 | Dec 16, 2021 |
| VRK1 | 7 | Apr 15, 2022 |
| VWF | 17 | Dec 16, 2021 |
| WARS1 | 1 | Sep 23, 2021 |
| WAS | 2 | Sep 23, 2021 |
| WASHC5 | 5 | Sep 23, 2021 |
| WBP4 | 1 | Sep 23, 2021 |
| WDPCP | 7 | Dec 16, 2021 |
| WDR1 | 3 | Dec 16, 2021 |
| WDR19 | 11 | Dec 16, 2021 |
| WDR35 | 2 | Oct 15, 2021 |
| WDR45 | 1 | Sep 23, 2021 |
| WDR81 | 1 | Dec 16, 2021 |
| WHRN | 1 | Sep 23, 2021 |
| WIPF1 | 1 | Sep 23, 2021 |
| WIPF1-AS1 | 1 | Sep 23, 2021 |
| WNK1 | 13 | Dec 16, 2021 |
| WNT10A | 4 | Dec 16, 2021 |
| WRAP53 | 2 | Sep 23, 2021 |
| WRN | 1 | Sep 23, 2021 |
| WT1 | 16 | Oct 15, 2021 |
| WWOX | 6 | Dec 16, 2021 |
| XDH | 9 | Dec 16, 2021 |
| XIAP | 2 | Sep 23, 2021 |
| XIRP2 | 2 | Sep 23, 2021 |
| XPNPEP3 | 1 | Oct 15, 2021 |
| XPO1 | 21 | Jul 30, 2025 |
| XRCC5 | 1 | Sep 23, 2021 |
| YARS1 | 1 | Sep 23, 2021 |
| ZAP70 | 3 | Sep 23, 2021 |
| ZDHHC15 | 1 | Sep 23, 2021 |
| ZDHHC24 | 5 | Sep 23, 2021 |
| ZDHHC9 | 2 | Sep 23, 2021 |
| ZEB2 | 6 | Oct 15, 2021 |
| ZFPM2 | 2 | Sep 23, 2021 |
| ZFPM2-AS1 | 1 | Sep 23, 2021 |
| ZFYVE26 | 6 | Oct 15, 2021 |
| ZFYVE27 | 2 | Sep 23, 2021 |
| ZIC3 | 4 | Sep 23, 2021 |
| ZMPSTE24 | 1 | Dec 16, 2021 |
| ZNF341 | 2 | Oct 15, 2021 |
| ZNF341-AS1 | 1 | Sep 23, 2021 |
| ZNF423 | 5 | Oct 15, 2021 |
| ZNF627 | 1 | Sep 23, 2021 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 3-Methylglutaconic aciduria type 2 | 2 tests |
| 46,XY sex reversal 3 | 1 test |
| ANKRD1-related dilated cardiomyopathy | 1 test |
| Aarskog syndrome | 1 test |
| Absence seizure | 1 test |
| Acne inversa, familial, 1 | 1 test |
| Acne inversa, familial, 2 | 1 test |
| Acquired hemoglobin H disease | 1 test |
| Acromicric dysplasia | 1 test |
| Actin accumulation myopathy | 2 tests |
| Action myoclonus-renal failure syndrome | 1 test |
| Acute myeloid leukemia | 1 test |
| Adenylosuccinate lyase deficiency | 1 test |
| Adult neuronal ceroid lipofuscinosis | 1 test |
| Adult-onset proximal spinal muscular atrophy, autosomal dominant | 1 test |
| Agammaglobulinemia 2, autosomal recessive | 1 test |
| Agammaglobulinemia 3, autosomal recessive | 1 test |
| Agammaglobulinemia 4, autosomal recessive | 1 test |
| Agammaglobulinemia 6, autosomal recessive | 1 test |
| Aicardi-Goutieres syndrome 1 | 1 test |
| Aicardi-Goutieres syndrome 2 | 1 test |
| Aicardi-Goutieres syndrome 3 | 1 test |
| Aicardi-Goutieres syndrome 4 | 1 test |
| Aicardi-Goutieres syndrome 5 | 1 test |
| Alagille syndrome due to a JAG1 point mutation | 1 test |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 test |
| Alternating hemiplegia of childhood 1 | 1 test |
| Amelogenesis imperfecta - hypoplastic autosomal dominant - local | 1 test |
| Amelogenesis imperfecta hypomaturation type 2A3 | 1 test |
| Amelogenesis imperfecta hypomaturation type 2A4 | 1 test |
| Amelogenesis imperfecta type 1C | 1 test |
| Amelogenesis imperfecta type 1E | 1 test |
| Amelogenesis imperfecta type 1G | 1 test |
| Amelogenesis imperfecta type 2A1 | 1 test |
| Amelogenesis imperfecta, hypocalcification type | 1 test |
| Amyloidosis, hereditary systemic 1 | 2 tests |
| Amyotrophic lateral sclerosis type 1 | 2 tests |
| Amyotrophic lateral sclerosis type 10 | 2 tests |
| Amyotrophic lateral sclerosis type 11 | 2 tests |
| Amyotrophic lateral sclerosis type 2, juvenile | 2 tests |
| Amyotrophic lateral sclerosis type 4 | 3 tests |
| Amyotrophic lateral sclerosis type 6 | 2 tests |
| Amyotrophic lateral sclerosis type 8 | 2 tests |
| Amyotrophic lateral sclerosis type 9 | 2 tests |
| Andersen Tawil syndrome | 1 test |
| Androgen resistance syndrome | 1 test |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 test |
| Aneurysm-osteoarthritis syndrome | 1 test |
| Angelman syndrome | 2 tests |
| Aortic aneurysm, familial thoracic 4 | 2 tests |
| Aortic aneurysm, familial thoracic 6 | 1 test |
| Aortic aneurysm, familial thoracic 7 | 1 test |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2 tests |
| Arrhythmogenic right ventricular dysplasia 1 | 3 tests |
| Arrhythmogenic right ventricular dysplasia 10 | 3 tests |
| Arrhythmogenic right ventricular dysplasia 11 | 3 tests |
| Arrhythmogenic right ventricular dysplasia 12 | 3 tests |
| Arrhythmogenic right ventricular dysplasia 2 | 2 tests |
| Arrhythmogenic right ventricular dysplasia 5 | 3 tests |
| Arrhythmogenic right ventricular dysplasia 8 | 3 tests |
| Arrhythmogenic right ventricular dysplasia 9 | 3 tests |
| Arterial tortuosity syndrome | 1 test |
| Arthrogryposis, distal, type 1A | 1 test |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 test |
| Atrial fibrillation, familial, 10 | 2 tests |
| Atrial fibrillation, familial, 12 | 1 test |
| Atrial fibrillation, familial, 13 | 3 tests |
| Atrial fibrillation, familial, 3 | 1 test |
| Atrial fibrillation, familial, 4 | 1 test |
| Atrial fibrillation, familial, 9 | 1 test |
| Atrial septal defect 2 | 1 test |
| Atrial septal defect 3 | 2 tests |
| Atrial septal defect 4 | 1 test |
| Atrial septal defect 5 | 2 tests |
| Atrial septal defect 7 | 1 test |
| Atrioventricular septal defect 4 | 1 test |
| Atrioventricular septal defect and common atrioventricular junction | 1 test |
| Atrioventricular septal defect, susceptibility to, 2 | 1 test |
| Atypical hemolytic-uremic syndrome with I factor anomaly | 1 test |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 1 test |
| Autism, susceptibility to, 15 | 1 test |
| Autism, susceptibility to, X-linked 3 | 2 tests |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 2 tests |
| Autoimmune lymphoproliferative syndrome type 1 | 3 tests |
| Autoimmune lymphoproliferative syndrome type 2A | 2 tests |
| Autoimmune lymphoproliferative syndrome type 2B | 1 test |
| Autoimmune lymphoproliferative syndrome type 4 | 2 tests |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 1 test |
| Autosomal dominant distal renal tubular acidosis | 1 test |
| Autosomal dominant hypocalcemia 1 | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 2 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 2 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2 tests |
| Autosomal dominant nonsyndromic hearing loss 10 | 1 test |
| Autosomal recessive Kenny-Caffey syndrome | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 1 test |
| Azorean disease | 1 test |
| BLOOD GROUP--DIEGO SYSTEM | 1 test |
| BLOOD GROUP--FROESE | 1 test |
| BLOOD GROUP--SWANN SYSTEM | 1 test |
| BLOOD GROUP--WALDNER TYPE | 1 test |
| BLOOD GROUP--WRIGHT ANTIGEN | 1 test |
| BNAR syndrome | 1 test |
| Becker muscular dystrophy | 1 test |
| Benign Rolandic epilepsy | 1 test |
| Benign recurrent intrahepatic cholestasis type 1 | 1 test |
| Benign recurrent intrahepatic cholestasis type 2 | 1 test |
| Biotin-responsive basal ganglia disease | 1 test |
| Biotinidase deficiency | 1 test |
| Blau syndrome | 1 test |
| Blepharophimosis - intellectual disability syndrome, MKB type | 1 test |
| Borjeson-Forssman-Lehmann syndrome | 1 test |
| Branchiootic syndrome 1 | 1 test |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 test |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 1 test |
| Brugada syndrome 1 | 2 tests |
| Brugada syndrome 2 | 1 test |
| Brugada syndrome 4 | 1 test |
| Brugada syndrome 5 | 3 tests |
| Brugada syndrome 6 | 1 test |
| Brugada syndrome 7 | 1 test |
| Brugada syndrome 8 | 1 test |
| CBL-related disorder | 1 test |
| Candidiasis, familial, 6 | 2 tests |
| Carcinoma of pancreas | 2 tests |
| Cardiac arrhythmia, ankyrin-B-related | 1 test |
| Cardiac conduction abnormality | 1 test |
| Cardiofaciocutaneous syndrome 1 | 1 test |
| Cardiofaciocutaneous syndrome 2 | 2 tests |
| Cardiofaciocutaneous syndrome 3 | 1 test |
| Cardiofaciocutaneous syndrome 4 | 1 test |
| Cardiomyopathy | 2 tests |
| Cardiomyopathy, familial restrictive, 1 | 1 test |
| Cardiomyopathy, familial restrictive, 3 | 1 test |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 1 test |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 1 test |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 1 test |
| Carpal tunnel syndrome | 1 test |
| Cataract 16 multiple types | 2 tests |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 2 tests |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 2 tests |
| Central core myopathy | 1 test |
| Cerebral cavernous malformation | 1 test |
| Cerebral cavernous malformation 2 | 1 test |
| Cerebral cavernous malformation 3 | 1 test |
| Cerebral folate transport deficiency | 1 test |
| Cernunnos-XLF deficiency | 1 test |
| Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 1 test |
| Ceroid lipofuscinosis, neuronal, 6A | 1 test |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 2 tests |
| Charcot-Marie-Tooth disease type 2B1 | 2 tests |
| Charcot-Marie-Tooth disease type 4J | 1 test |
| Chilblain lupus 1 | 1 test |
| Chilblain lupus 2 | 1 test |
| Childhood onset GLUT1 deficiency syndrome 2 | 4 tests |
| Cholestasis, intrahepatic, of pregnancy, 1 | 1 test |
| Cholestasis, intrahepatic, of pregnancy, 3 | 1 test |
| Christianson syndrome | 1 test |
| Chromosome 2p16.3 deletion syndrome | 1 test |
| Chromosome Xp11.22 duplication syndrome | 1 test |
| Chronic infantile neurological, cutaneous and articular syndrome | 2 tests |
| Chédiak-Higashi syndrome | 1 test |
| Classic homocystinuria | 1 test |
| Cleft palate with or without ankyloglossia, X-linked | 1 test |
| Cognitive impairment with or without cerebellar ataxia | 1 test |
| Colorectal cancer, hereditary nonpolyposis, type 6 | 1 test |
| Combined immunodeficiency due to DOCK8 deficiency | 3 tests |
| Combined immunodeficiency due to LRBA deficiency | 1 test |
| Combined immunodeficiency due to ORAI1 deficiency | 1 test |
| Combined immunodeficiency due to STIM1 deficiency | 1 test |
| Combined immunodeficiency due to ZAP70 deficiency | 2 tests |
| Combined immunodeficiency due to partial RAG1 deficiency | 1 test |
| Combined immunodeficiency with skin granulomas | 1 test |
| Combined immunodeficiency, X-linked | 1 test |
| Congenital amegakaryocytic thrombocytopenia | 1 test |
| Congenital contractural arachnodactyly | 1 test |
| Congenital heart defects, multiple types, 6 | 1 test |
| Congenital heart disease | 1 test |
| Congenital microvillous atrophy | 1 test |
| Congenital multicore myopathy with external ophthalmoplegia | 1 test |
| Congenital muscular dystrophy due to LMNA mutation | 2 tests |
| Congenital muscular hypertrophy-cerebral syndrome | 1 test |
| Congenital myopathy 23 | 2 tests |
| Congenital myopathy 4B, autosomal recessive | 2 tests |
| Congenital myopathy with fiber type disproportion | 1 test |
| Conotruncal heart malformations | 1 test |
| Corpus callosum agenesis-abnormal genitalia syndrome | 2 tests |
| Cortical dysplasia-focal epilepsy syndrome | 1 test |
| Costello syndrome | 1 test |
| Craniometaphyseal dysplasia, autosomal recessive | 1 test |
| Creatine transporter deficiency | 1 test |
| Cutis laxa, autosomal dominant 1 | 2 tests |
| DNA ligase IV deficiency | 1 test |
| DOORS syndrome | 3 tests |
| DYRK1A-related intellectual disability syndrome | 1 test |
| Danon disease | 1 test |
| Deficiency of guanidinoacetate methyltransferase | 1 test |
| Deficiency of phosphoserine phosphatase | 2 tests |
| Desmin-related myofibrillar myopathy | 3 tests |
| Developmental and epileptic encephalopathy 94 | 1 test |
| Developmental and epileptic encephalopathy, 1 | 3 tests |
| Developmental and epileptic encephalopathy, 11 | 3 tests |
| Developmental and epileptic encephalopathy, 12 | 1 test |
| Developmental and epileptic encephalopathy, 13 | 1 test |
| Developmental and epileptic encephalopathy, 14 | 2 tests |
| Developmental and epileptic encephalopathy, 16 | 3 tests |
| Developmental and epileptic encephalopathy, 2 | 2 tests |
| Developmental and epileptic encephalopathy, 4 | 3 tests |
| Developmental and epileptic encephalopathy, 5 | 1 test |
| Developmental and epileptic encephalopathy, 7 | 2 tests |
| Developmental and epileptic encephalopathy, 8 | 2 tests |
| Developmental and epileptic encephalopathy, 9 | 3 tests |
| DiGeorge syndrome | 1 test |
| Diabetes insipidus, nephrogenic, X-linked | 1 test |
| Diabetes insipidus, nephrogenic, autosomal | 1 test |
| Diabetes mellitus type 1 | 1 test |
| Dilated cardiomyopathy 1A | 2 tests |
| Dilated cardiomyopathy 1AA | 1 test |
| Dilated cardiomyopathy 1BB | 2 tests |
| Dilated cardiomyopathy 1C | 3 tests |
| Dilated cardiomyopathy 1CC | 1 test |
| Dilated cardiomyopathy 1D | 1 test |
| Dilated cardiomyopathy 1DD | 1 test |
| Dilated cardiomyopathy 1E | 2 tests |
| Dilated cardiomyopathy 1EE | 2 tests |
| Dilated cardiomyopathy 1FF | 1 test |
| Dilated cardiomyopathy 1G | 1 test |
| Dilated cardiomyopathy 1HH | 2 tests |
| Dilated cardiomyopathy 1I | 3 tests |
| Dilated cardiomyopathy 1II | 2 tests |
| Dilated cardiomyopathy 1J | 1 test |
| Dilated cardiomyopathy 1JJ | 1 test |
| Dilated cardiomyopathy 1KK | 1 test |
| Dilated cardiomyopathy 1L | 1 test |
| Dilated cardiomyopathy 1M | 1 test |
| Dilated cardiomyopathy 1O | 1 test |
| Dilated cardiomyopathy 1P | 2 tests |
| Dilated cardiomyopathy 1R | 2 tests |
| Dilated cardiomyopathy 1S | 2 tests |
| Dilated cardiomyopathy 1T | 1 test |
| Dilated cardiomyopathy 1W | 1 test |
| Dilated cardiomyopathy 1X | 1 test |
| Dilated cardiomyopathy 1Y | 1 test |
| Dilated cardiomyopathy 1Z | 1 test |
| Dilated cardiomyopathy 2A | 1 test |
| Dilated cardiomyopathy 2B | 1 test |
| Dilated cardiomyopathy 3B | 1 test |
| Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 2 tests |
| Disorder of cardiovascular system | 1 test |
| Distal myopathy with posterior leg and anterior hand involvement | 2 tests |
| Distal myopathy, Tateyama type | 2 tests |
| Duchenne muscular dystrophy | 1 test |
| Dystonia 9 | 4 tests |
| EAST syndrome | 1 test |
| EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 | 1 test |
| Early myoclonic encephalopathy | 2 tests |
| Early-onset myopathy with fatal cardiomyopathy | 1 test |
| Ectopia lentis 1, isolated, autosomal dominant | 1 test |
| Ehlers-Danlos syndrome, classic type | 1 test |
| Ehlers-Danlos syndrome, classic type, 1 | 1 test |
| Ehlers-Danlos syndrome, musculocontractural type | 1 test |
| Ehlers-Danlos syndrome, type 3 | 1 test |
| Ehlers-Danlos syndrome, type 4 | 1 test |
| Elevated circulating creatine kinase concentration | 2 tests |
| Elliptocytosis 1 | 1 test |
| Elliptocytosis 2 | 1 test |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2 tests |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 2 tests |
| Encephalopathy due to GLUT1 deficiency | 4 tests |
| Encephalopathy, acute, infection-induced, susceptibility to, 4 | 1 test |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 test |
| Epilepsy, childhood absence, susceptibility to, 5 | 1 test |
| Epilepsy, childhood absence, susceptibility to, 6 | 1 test |
| Epilepsy, familial temporal lobe, 1 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 4 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 13 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 8 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | 1 test |
| Epilepsy, progressive myoclonic, 1B | 2 tests |
| Episodic ataxia type 1 | 1 test |
| Episodic ataxia type 2 | 3 tests |
| Episodic ataxia type 5 | 1 test |
| Episodic kinesigenic dyskinesia 1 | 2 tests |
| FADD-related immunodeficiency | 1 test |
| FG syndrome 1 | 1 test |
| FOXG1 disorder | 3 tests |
| Fabry disease | 1 test |
| Familial Mediterranean fever | 2 tests |
| Familial Mediterranean fever, autosomal dominant | 1 test |
| Familial acute necrotizing encephalopathy | 1 test |
| Familial amyloid nephropathy with urticaria AND deafness | 1 test |
| Familial cold autoinflammatory syndrome 1 | 2 tests |
| Familial cold autoinflammatory syndrome 2 | 2 tests |
| Familial cold autoinflammatory syndrome 3 | 1 test |
| Familial hemophagocytic lymphohistiocytosis 2 | 2 tests |
| Familial hemophagocytic lymphohistiocytosis 3 | 2 tests |
| Familial hemophagocytic lymphohistiocytosis 4 | 2 tests |
| Familial hemophagocytic lymphohistiocytosis 5 | 2 tests |
| Familial hyperaldosteronism type III | 1 test |
| Familial hypocalciuric hypercalcemia 1 | 1 test |
| Familial hypokalemia-hypomagnesemia | 1 test |
| Familial infantile myoclonic epilepsy | 3 tests |
| Familial partial lipodystrophy, Dunnigan type | 2 tests |
| Fanconi anemia complementation group D1 | 1 test |
| Farber lipogranulomatosis | 1 test |
| Febrile seizures, familial, 4 | 1 test |
| Febrile seizures, familial, 8 | 1 test |
| Fibromatosis, gingival, 1 | 1 test |
| Fibrous dysplasia of jaw | 1 test |
| Focal segmental glomerulosclerosis 1 | 1 test |
| Focal segmental glomerulosclerosis 3, susceptibility to | 1 test |
| Fraser syndrome 1 | 3 tests |
| Friedreich ataxia 1 | 1 test |
| Frontotemporal dementia | 1 test |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | 1 test |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 2 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | 1 test |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 1 test |
| Geleophysic dysplasia 2 | 1 test |
| Generalized epilepsy with febrile seizures plus, type 1 | 3 tests |
| Generalized epilepsy with febrile seizures plus, type 2 | 3 tests |
| Generalized epilepsy with febrile seizures plus, type 7 | 2 tests |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 1 test |
| Generalized pustular psoriasis | 2 tests |
| Glioma susceptibility 3 | 1 test |
| Glycine encephalopathy | 5 tests |
| Graft-versus-host disease, susceptibility to | 1 test |
| Griscelli syndrome type 2 | 1 test |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 1 test |
| HSD10 mitochondrial disease | 1 test |
| Heart-hand syndrome, Slovenian type | 2 tests |
| Hereditary spastic paraplegia 2 | 1 test |
| Hereditary spherocytosis type 1 | 1 test |
| Hereditary spherocytosis type 2 | 1 test |
| Hereditary spherocytosis type 3 | 1 test |
| Hereditary spherocytosis type 4 | 1 test |
| Hereditary spherocytosis type 5 | 1 test |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 1 test |
| Hermansky-Pudlak syndrome 2 | 1 test |
| Heterotaxy, visceral, 1, X-linked | 1 test |
| Heterotaxy, visceral, 2, autosomal | 1 test |
| Heterotaxy, visceral, 4, autosomal | 1 test |
| Heterotaxy, visceral, 5, autosomal | 1 test |
| Hirschsprung disease, susceptibility to, 3 | 1 test |
| Histiocytic medullary reticulosis | 1 test |
| Holt-Oram syndrome | 2 tests |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 1 test |
| Hutchinson-Gilford syndrome | 2 tests |
| Hydatidiform mole, recurrent, 1 | 1 test |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 2 tests |
| Hyper-IgM syndrome type 1 | 3 tests |
| Hyper-IgM syndrome type 2 | 2 tests |
| Hyper-IgM syndrome type 3 | 2 tests |
| Hyper-IgM syndrome type 5 | 1 test |
| Hyperekplexia 1 | 1 test |
| Hyperekplexia 2 | 1 test |
| Hyperimmunoglobulin D with periodic fever | 2 tests |
| Hyperthyroxinemia, dystransthyretinemic | 1 test |
| Hypertrichotic osteochondrodysplasia Cantu type | 2 tests |
| Hypertrophic cardiomyopathy 1 | 2 tests |
| Hypertrophic cardiomyopathy 10 | 1 test |
| Hypertrophic cardiomyopathy 11 | 2 tests |
| Hypertrophic cardiomyopathy 12 | 1 test |
| Hypertrophic cardiomyopathy 13 | 1 test |
| Hypertrophic cardiomyopathy 14 | 2 tests |
| Hypertrophic cardiomyopathy 15 | 1 test |
| Hypertrophic cardiomyopathy 16 | 1 test |
| Hypertrophic cardiomyopathy 17 | 1 test |
| Hypertrophic cardiomyopathy 18 | 3 tests |
| Hypertrophic cardiomyopathy 19 | 1 test |
| Hypertrophic cardiomyopathy 2 | 1 test |
| Hypertrophic cardiomyopathy 20 | 1 test |
| Hypertrophic cardiomyopathy 25 | 1 test |
| Hypertrophic cardiomyopathy 3 | 2 tests |
| Hypertrophic cardiomyopathy 4 | 2 tests |
| Hypertrophic cardiomyopathy 6 | 1 test |
| Hypertrophic cardiomyopathy 7 | 1 test |
| Hypertrophic cardiomyopathy 8 | 1 test |
| Hypertrophic cardiomyopathy 9 | 1 test |
| Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | 1 test |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 test |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 1 test |
| Hypoplastic left heart syndrome 1 | 1 test |
| Hypoplastic left heart syndrome 2 | 1 test |
| Hypospadias 1, X-linked | 1 test |
| Hypothyroidism, congenital, nongoitrous, 5 | 1 test |
| Idiopathic generalized epilepsy | 1 test |
| Immune deficiency disease | 1 test |
| Immunodeficiency 104 | 2 tests |
| Immunodeficiency 31B | 1 test |
| Immunodeficiency 35 | 1 test |
| Immunodeficiency 51 | 2 tests |
| Immunodeficiency 83, susceptibility to viral infections | 1 test |
| Immunodeficiency due to CD25 deficiency | 3 tests |
| Immunodeficiency due to defect in CD3-gamma | 1 test |
| Immunodeficiency due to defect in cd3-epsilon | 1 test |
| Immunodeficiency, common variable, 1 | 1 test |
| Immunodeficiency, common variable, 2 | 1 test |
| Immunodeficiency, common variable, 3 | 1 test |
| Immunodeficiency, common variable, 4 | 1 test |
| Immunodeficiency, common variable, 6 | 1 test |
| Immunoglobulin A deficiency 2 | 1 test |
| Immunoglobulin M, level of | 1 test |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 1 test |
| Infantile convulsions and choreoathetosis | 2 tests |
| Infantile-onset ascending hereditary spastic paralysis | 1 test |
| Inflammatory bowel disease 25 | 2 tests |
| Inflammatory bowel disease 28 | 2 tests |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 test |
| Intellectual disability | 1 test |
| Intellectual disability, X-linked 30 | 1 test |
| Intellectual disability, X-linked 72 | 1 test |
| Intellectual disability, X-linked 96 | 1 test |
| Intellectual disability, X-linked, with or without seizures, ARX-related | 2 tests |
| Intellectual disability, autosomal dominant 1 | 1 test |
| Intellectual disability, autosomal dominant 2 | 2 tests |
| Intellectual disability, autosomal dominant 5 | 2 tests |
| Intellectual disability, autosomal dominant 6 | 2 tests |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 test |
| Jervell and Lange-Nielsen syndrome 1 | 1 test |
| Jervell and Lange-Nielsen syndrome 2 | 1 test |
| Joubert syndrome 10 | 1 test |
| Juvenile myoclonic epilepsy | 1 test |
| Juvenile primary lateral sclerosis | 1 test |
| Kennedy disease | 1 test |
| Keratosis palmoplantaris striata 2 | 2 tests |
| LEOPARD syndrome 1 | 1 test |
| LEOPARD syndrome 2 | 1 test |
| LEOPARD syndrome 3 | 1 test |
| Lafora disease | 1 test |
| Landau-Kleffner syndrome | 3 tests |
| Left ventricular noncompaction 1 | 1 test |
| Left ventricular noncompaction 10 | 2 tests |
| Lethal acantholytic epidermolysis bullosa | 2 tests |
| Lethal congenital glycogen storage disease of heart | 1 test |
| Lethal tight skin contracture syndrome | 2 tests |
| Linear nevus sebaceous syndrome | 1 test |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 test |
| Loeys-Dietz syndrome 1 | 1 test |
| Loeys-Dietz syndrome 2 | 1 test |
| Loeys-Dietz syndrome 4 | 1 test |
| Long QT syndrome 1 | 1 test |
| Long QT syndrome 10 | 1 test |
| Long QT syndrome 11 | 1 test |
| Long QT syndrome 13 | 1 test |
| Long QT syndrome 3 | 2 tests |
| Long QT syndrome 5 | 1 test |
| Long QT syndrome 6 | 1 test |
| Long QT syndrome 9 | 2 tests |
| Low phospholipid associated cholelithiasis | 1 test |
| Lung carcinoma | 1 test |
| MASS syndrome | 1 test |
| MYH7-related skeletal myopathy | 2 tests |
| Majeed syndrome | 1 test |
| Malignant hyperthermia, susceptibility to, 1 | 1 test |
| Mandibuloacral dysplasia with type A lipodystrophy | 2 tests |
| Marfan syndrome | 1 test |
| Medulloblastoma | 1 test |
| Metachondromatosis | 1 test |
| Mevalonic aciduria | 1 test |
| Microcephaly, seizures, and developmental delay | 3 tests |
| Microvascular complications of diabetes, susceptibility to, 4 | 1 test |
| Migraine, familial hemiplegic, 1 | 3 tests |
| Migraine, familial hemiplegic, 2 | 1 test |
| Migraine, familial hemiplegic, 3 | 3 tests |
| Mowat-Wilson syndrome | 2 tests |
| Moyamoya disease 5 | 1 test |
| Multiple endocrine neoplasia type 2A | 1 test |
| Multiple endocrine neoplasia type 4 | 1 test |
| Multiple endocrine neoplasia, type 1 | 1 test |
| Multiple sclerosis, susceptibility to, 5 | 1 test |
| Multiple self-healing squamous epithelioma | 1 test |
| Multisystemic smooth muscle dysfunction syndrome | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 1 test |
| Myoclonic epilepsy, juvenile, susceptibility to, 3 | 1 test |
| Myofibrillar myopathy 2 | 2 tests |
| Myofibrillar myopathy 3 | 2 tests |
| Myofibrillar myopathy 4 | 3 tests |
| Myofibrillar myopathy 5 | 2 tests |
| Myofibrillar myopathy 6 | 2 tests |
| Myopathy | 1 test |
| Myopathy, reducing body, X-linked, childhood-onset | 2 tests |
| Myopathy, reducing body, X-linked, early-onset, severe | 2 tests |
| Myopathy, tubular aggregate, 1 | 1 test |
| Myosin storage myopathy | 2 tests |
| Naxos disease | 2 tests |
| Nemaline myopathy 2 | 1 test |
| Nemaline myopathy 5 | 2 tests |
| Nemaline myopathy 6 | 2 tests |
| Nemaline myopathy 7 | 2 tests |
| Neonatal severe primary hyperparathyroidism | 1 test |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 3 tests |
| Neurogenic scapuloperoneal syndrome, Kaeser type | 3 tests |
| Neurohypophyseal diabetes insipidus | 1 test |
| Neuronal ceroid lipofuscinosis 1 | 1 test |
| Neuronal ceroid lipofuscinosis 10 | 1 test |
| Neuronal ceroid lipofuscinosis 11 | 1 test |
| Neuronal ceroid lipofuscinosis 2 | 1 test |
| Neuronal ceroid lipofuscinosis 3 | 1 test |
| Neuronal ceroid lipofuscinosis 5 | 1 test |
| Neuronal ceroid lipofuscinosis 7 | 1 test |
| Neuronal ceroid lipofuscinosis 8 | 1 test |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 1 test |
| Niemann-Pick disease, type A | 1 test |
| Niemann-Pick disease, type B | 1 test |
| Niemann-Pick disease, type C1 | 1 test |
| Niemann-Pick disease, type C2 | 1 test |
| Non-Hodgkin lymphoma | 1 test |
| Noonan syndrome 1 | 1 test |
| Noonan syndrome 3 | 2 tests |
| Noonan syndrome 4 | 1 test |
| Noonan syndrome 5 | 1 test |
| Noonan syndrome 6 | 2 tests |
| Noonan syndrome 7 | 1 test |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 test |
| Obesity | 1 test |
| Obesity due to congenital leptin deficiency | 1 test |
| Obesity due to leptin receptor gene deficiency | 1 test |
| Oculodentodigital dysplasia | 1 test |
| Oculodentodigital dysplasia, autosomal recessive | 1 test |
| Oculofaciocardiodental syndrome | 1 test |
| Oculotrichoanal syndrome | 1 test |
| Oligodontia-cancer predisposition syndrome | 1 test |
| Opioid dependence, susceptibility to, 1 | 1 test |
| Orofacial cleft 10 | 1 test |
| Orofacial cleft 6, susceptibility to | 1 test |
| Orofaciodigital syndrome I | 1 test |
| PHGDH deficiency | 1 test |
| PMM2-congenital disorder of glycosylation | 1 test |
| PSAT deficiency | 2 tests |
| Pancreatic cancer, susceptibility to, 2 | 1 test |
| Pancreatic cancer, susceptibility to, 4 | 1 test |
| Paroxysmal extreme pain disorder | 2 tests |
| Paroxysmal familial ventricular fibrillation | 2 tests |
| Partial androgen insensitivity syndrome | 1 test |
| Partington syndrome | 2 tests |
| Pelizaeus-Merzbacher disease | 1 test |
| Pheochromocytoma | 2 tests |
| Pick disease | 1 test |
| Pierson syndrome | 1 test |
| Pitt-Hopkins syndrome | 1 test |
| Pitt-Hopkins-like syndrome 2 | 1 test |
| Polyglandular autoimmune syndrome, type 1 | 2 tests |
| Porokeratosis 3, disseminated superficial actinic type | 1 test |
| Predisposition to invasive fungal disease due to CARD9 deficiency | 1 test |
| Primary dilated cardiomyopathy | 1 test |
| Primary erythromelalgia | 2 tests |
| Progressive familial heart block, type 1A | 2 tests |
| Progressive familial intrahepatic cholestasis type 1 | 2 tests |
| Progressive familial intrahepatic cholestasis type 2 | 2 tests |
| Progressive familial intrahepatic cholestasis type 3 | 2 tests |
| Progressive myoclonic epilepsy type 3 | 2 tests |
| Progressive myoclonic epilepsy type 5 | 1 test |
| Progressive myoclonic epilepsy type 6 | 1 test |
| Progressive supranuclear ophthalmoplegia | 1 test |
| Progressive supranuclear palsy-parkinsonism syndrome | 1 test |
| Proteasome-associated autoinflammatory syndrome 1 | 2 tests |
| Purine-nucleoside phosphorylase deficiency | 1 test |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 2 tests |
| Pyridoxal phosphate-responsive seizures | 3 tests |
| Pyridoxine-dependent epilepsy | 3 tests |
| Pyropoikilocytosis, hereditary | 1 test |
| Renal cysts and diabetes syndrome | 1 test |
| Renal hypodysplasia/aplasia 1 | 1 test |
| Renal tubular acidosis, distal, 4, with hemolytic anemia | 1 test |
| Renpenning syndrome | 1 test |
| Reticular dysgenesis | 1 test |
| Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 1 test |
| Rett syndrome | 2 tests |
| Rh-null, regulator type | 1 test |
| Rienhoff syndrome | 2 tests |
| Right atrial isomerism | 1 test |
| Rippling muscle disease 2 | 2 tests |
| Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 3 tests |
| SUDDEN INFANT DEATH SYNDROME | 2 tests |
| Seizures, benign familial infantile, 2 | 2 tests |
| Seizures, benign familial infantile, 3 | 4 tests |
| Seizures, benign familial neonatal, 1 | 3 tests |
| Seizures, benign familial neonatal, 2 | 2 tests |
| Severe combined immunodeficiency due to CORO1A deficiency | 1 test |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 1 test |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1 test |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 3 tests |
| Severe myoclonic epilepsy in infancy | 4 tests |
| Severe neonatal-onset encephalopathy with microcephaly | 2 tests |
| Short QT syndrome type 1 | 1 test |
| Short QT syndrome type 2 | 1 test |
| Short QT syndrome type 3 | 1 test |
| Sick sinus syndrome 1 | 2 tests |
| Sick sinus syndrome 2, autosomal dominant | 1 test |
| Sick sinus syndrome 3, susceptibility to | 2 tests |
| Simpson-Golabi-Behmel syndrome type 1 | 1 test |
| Simpson-Golabi-Behmel syndrome type 2 | 1 test |
| Somatotroph adenoma | 1 test |
| Spastic ataxia 5 | 1 test |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 1 test |
| Spinocerebellar ataxia 7 | 1 test |
| Spinocerebellar ataxia type 1 | 1 test |
| Spinocerebellar ataxia type 13 | 1 test |
| Spinocerebellar ataxia type 14 | 1 test |
| Spinocerebellar ataxia type 17 | 1 test |
| Spinocerebellar ataxia type 2 | 1 test |
| Spinocerebellar ataxia type 23 | 1 test |
| Spinocerebellar ataxia type 27 | 1 test |
| Spinocerebellar ataxia type 28 | 1 test |
| Spinocerebellar ataxia type 6 | 3 tests |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2 tests |
| Sterile multifocal osteomyelitis with periostitis and pustulosis | 2 tests |
| Stiff skin syndrome | 1 test |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 1 test |
| Supravalvar aortic stenosis | 2 tests |
| Susceptibility to respiratory infections associated with CD8alpha chain mutation | 1 test |
| Syndactyly type 3 | 1 test |
| Syndromic X-linked intellectual disability 94 | 1 test |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 test |
| Syndromic X-linked intellectual disability Hedera type | 1 test |
| Syndromic X-linked intellectual disability Lubs type | 2 tests |
| Syndromic X-linked intellectual disability Najm type | 1 test |
| Syndromic X-linked intellectual disability Snyder type | 1 test |
| Syndromic multisystem autoimmune disease due to ITCH deficiency | 1 test |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 1 test |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 2 tests |
| Testicular anomalies with or without congenital heart disease | 1 test |
| Thrombocythemia 1 | 1 test |
| Thyroid cancer, nonmedullary, 2 | 1 test |
| Tooth agenesis, selective, 1 | 1 test |
| Tooth agenesis, selective, 3 | 1 test |
| Tooth agenesis, selective, 4 | 1 test |
| Tremor, hereditary essential, 4 | 1 test |
| Tricho-dento-osseous syndrome | 1 test |
| Trigonocephaly 2 | 1 test |
| Type 1 diabetes mellitus 10 | 3 tests |
| Unverricht-Lundborg syndrome | 1 test |
| Usher syndrome type 2C | 1 test |
| VACTERL association, X-linked, with or without hydrocephalus | 1 test |
| Van der Woude syndrome 1 | 1 test |
| Velocardiofacial syndrome | 3 tests |
| Ventricular septal defect 1 | 1 test |
| Ventricular septal defect 3 | 1 test |
| Von Hippel-Lindau syndrome | 1 test |
| Weill-Marchesani syndrome 2, dominant | 1 test |
| Wilms tumor 1 | 1 test |
| Wiskott-Aldrich syndrome | 1 test |
| Wolff-Parkinson-White pattern | 1 test |
| Woolly hair-skin fragility syndrome | 2 tests |
| X-linked Emery-Dreifuss muscular dystrophy | 1 test |
| X-linked agammaglobulinemia | 2 tests |
| X-linked agammaglobulinemia with growth hormone deficiency | 1 test |
| X-linked intellectual disability Cabezas type | 1 test |
| X-linked intellectual disability with marfanoid habitus | 1 test |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 test |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 2 tests |
| X-linked lissencephaly with abnormal genitalia | 2 tests |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 1 test |
| X-linked lymphoproliferative disease due to XIAP deficiency | 2 tests |
| X-linked myopathy with postural muscle atrophy | 2 tests |
| X-linked parkinsonism-spasticity syndrome | 1 test |
| X-linked scapuloperoneal muscular dystrophy | 2 tests |
| X-linked severe combined immunodeficiency | 2 tests |
| Yunis-Varon syndrome | 1 test |